Variants with conflicting interpretations studied for Renal carnitine transport defect

Minimum review status of the submission for Renal carnitine transport defect:		Collection method of the submission for Renal carnitine transport defect:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
869	184	0	118	40	0	45	178

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Renal carnitine transport defect		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	110	28	1	1
	likely pathogenic	101	0	37	1	1
	uncertain significance	28	39	0	35	4
	likely benign	1	1	39	0	9
	benign	1	1	4	9	0

Condition to condition summary #

Total conditions: 2

Download table as spreadsheet

Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Renal carnitine transport defect	889	179	0	109	36	0	43	163
Carnitine deficiency	0	20	0	60	4	0	19	68

All variants with conflicting interpretations #

Total variants: 178

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.1052+101A>G	rs2073645	0.06948
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser)	rs11568525	0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)	rs10040427	0.02190
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val)	rs139775414	0.00365
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)	rs144020613	0.00362
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile)	rs148233131	0.00335
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	rs11568514	0.00110
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)	rs77300588	0.00085
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)	rs149521997	0.00078
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	rs139203363	0.00066
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)	rs145792427	0.00063
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)	rs11568513	0.00061
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)	rs150705788	0.00058
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)	rs149730454	0.00054
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)	rs377734902	0.00051
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00047
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)	rs546442503	0.00036
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)	rs142447950	0.00033
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)	rs377767450	0.00029
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)	rs145068530	0.00027
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	rs386134199	0.00026
NM_003060.4(SLC22A5):c.-26G>A	rs369724970	0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)	rs150775371	0.00021
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)	rs142264458	0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)	rs146185976	0.00017
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)	rs544332057	0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)	rs75783492	0.00016
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)	rs150457229	0.00013
NM_003060.4(SLC22A5):c.952-14T>C	rs373018486	0.00011
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)	rs1321621475	0.00009
NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=)	rs780429964	0.00007
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)	rs577131769	0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)	rs200699819	0.00007
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)	rs144547521	0.00006
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	rs72552726	0.00006
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)	rs377216516	0.00005
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)	rs386134203	0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)	rs121908886	0.00005
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=)	rs758572818	0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)	rs185551386	0.00004
NM_003060.4(SLC22A5):c.1053-2A>C	rs777004046	0.00003
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)	rs200637508	0.00003
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)	rs121908887	0.00003
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)	rs200125400	0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)	rs199689597	0.00003
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)	rs386134221	0.00003
NM_003060.4(SLC22A5):c.1587-11T>G	rs772775759	0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	rs386134194	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg)	rs200290813	0.00003
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=)	rs748677211	0.00003
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	rs267607054	0.00002
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)	rs778716973	0.00002
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=)	rs1226557478	0.00002
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)	rs145350949	0.00002
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)	rs754008420	0.00001
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)	rs61731073	0.00001
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)	rs886042092	0.00001
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)	rs781417085	0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	rs746187344	0.00001
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr)	rs369354736	0.00001
NM_003060.4(SLC22A5):c.1198C>T (p.Arg400Cys)	rs1249681027	0.00001
NM_003060.4(SLC22A5):c.122T>G (p.Phe41Cys)	rs1335556134	0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)	rs781330134	0.00001
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)	rs72552733	0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)	rs386134218	0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	rs72552734	0.00001
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)	rs377767445	0.00001
NM_003060.4(SLC22A5):c.148del (p.Cys50fs)	rs386134227	0.00001
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)	rs1157198543	0.00001
NM_003060.4(SLC22A5):c.1609A>G (p.Ser537Gly)	rs1180267143	0.00001
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu)	rs758158685	0.00001
NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile)	rs1169005119	0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	rs727504159	0.00001
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg)	rs398123692	0.00001
NM_003060.4(SLC22A5):c.394-16T>A	rs775097754	0.00001
NM_003060.4(SLC22A5):c.394-2A>C	rs377724489	0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	rs72552727	0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)	rs1178584184	0.00001
NM_003060.4(SLC22A5):c.42G>C (p.Trp14Cys)	rs796052036	0.00001
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	rs267607052	0.00001
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)	rs747821417	0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)	rs386134197	0.00001
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)	rs72552723	0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)	rs386134198	0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)	rs121908888	0.00001
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)	rs756650860	0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)	rs775502377	0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)	rs772578415	0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	rs386134204	0.00001
NM_003060.4(SLC22A5):c.825-1G>C	rs1057516805	0.00001
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)	rs386134208	0.00001
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)	rs72552724	0.00001
NM_003060.4(SLC22A5):c.845dup (p.Trp283fs)	rs1580888136	0.00001
NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg)	rs72552729	0.00001
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter)	rs931801909	0.00001
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	rs386134212	0.00001
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)	rs72552730	0.00001
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs)	rs1554085861
NM_003060.4(SLC22A5):c.1006C>A (p.Arg336=)	rs754008420
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)	rs1385634398
NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys)	rs1266953756
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)	rs1580892239
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)	rs1580892402
NM_003060.4(SLC22A5):c.1159T>C (p.Tyr387His)	rs2126789736
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)	rs386134215
NM_003060.4(SLC22A5):c.1218C>T (p.Ala406=)	rs2532134650
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs)	rs2126789878
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)	rs1057518297
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)	rs779385095
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)	rs267607053
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys)	rs1183338050
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)	rs2532138401
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs)	rs2126791456
NM_003060.4(SLC22A5):c.1363C>A (p.Pro455Thr)	rs1326829327
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)	rs386134221
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)	rs386134222
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)	rs749282641
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)	rs386134223
NM_003060.4(SLC22A5):c.1412G>C (p.Arg471Pro)	rs386134223
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)	rs72552735
NM_003060.4(SLC22A5):c.1451-1G>A	rs386134224
NM_003060.4(SLC22A5):c.1451-2A>G	rs2532141155
NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter)	rs763224132
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter)	rs763224132
NM_003060.4(SLC22A5):c.1461C>T (p.Asp487=)	rs2532141220
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs)	rs1554088578
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)	rs386134225
NM_003060.4(SLC22A5):c.1586+1G>T	rs386134226
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs)	rs796052040
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)	rs1057516797
NM_003060.4(SLC22A5):c.16G>T (p.Glu6Ter)
NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter)	rs1554085942
NM_003060.4(SLC22A5):c.196A>C (p.Thr66Pro)	rs1476076948
NM_003060.4(SLC22A5):c.1A>G (p.Met1Val)	rs774971089
NM_003060.4(SLC22A5):c.252C>T (p.Tyr84=)	rs1253026669
NM_003060.4(SLC22A5):c.2T>C (p.Met1Thr)	rs1554085885
NM_003060.4(SLC22A5):c.393+1G>A	rs1057517069
NM_003060.4(SLC22A5):c.394-1G>T	rs1057517106
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile)	rs121908892
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)	rs756863825
NM_003060.4(SLC22A5):c.419G>A (p.Trp140Ter)	rs796052039
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)	rs796052036
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu)	rs751129547
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe)	rs759925126
NM_003060.4(SLC22A5):c.497+1G>A	rs2532106834
NM_003060.4(SLC22A5):c.497+2T>A	rs1752229268
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	rs121908890
NM_003060.4(SLC22A5):c.52del (p.Gln18fs)	rs1022453298
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)	rs1437174685
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)	rs1319889867
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro)	rs1561560424
NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)	rs1189776349
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)	rs757979350
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His)	rs780314370
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	rs377767444
NM_003060.4(SLC22A5):c.653-2A>C	rs386134201
NM_003060.4(SLC22A5):c.671del (p.Lys224fs)	rs2532120119
NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)	rs780840380
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)	rs1457258524
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)	rs72552728
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)	rs2126783802
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)	rs121908893
NM_003060.4(SLC22A5):c.782_799del (p.Val261_Pro266del)
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)	rs201262157
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)	rs538372785
NM_003060.4(SLC22A5):c.802del (p.Val268fs)	rs2126783993
NM_003060.4(SLC22A5):c.818T>C (p.Leu273Pro)	rs760320629
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)	rs386134207
NM_003060.4(SLC22A5):c.840C>T (p.Ser280=)	rs1282015269
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)	rs386134209
NM_003060.4(SLC22A5):c.881del (p.Glu294fs)	rs1554087719
NM_003060.4(SLC22A5):c.952-5_955del	rs2126787981

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.