Variants with conflicting interpretations studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Minimum review status of the submission for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA:		Collection method of the submission for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA:
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
448	57	0	56	15	0	16	82

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
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	47	9	0	0
	likely pathogenic	47	0	10	1	0
	uncertain significance	9	10	0	14	2
	likely benign	0	1	14	0	9
	benign	0	0	2	9	0

Condition to condition summary #

Total conditions: 1

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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
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	448	57	0	56	15	0	16	82

All variants with conflicting interpretations #

Total variants: 82

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.432G>A (p.Pro144=)	rs161628	0.02252
NM_000151.4(G6PC1):c.-77G>A	rs145752565	0.00919
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)	rs201961848	0.00164
NM_000151.4(G6PC1):c.-45G>A	rs367816430	0.00133
NM_000151.4(G6PC1):c.340+10C>A	rs368450665	0.00115
NM_000151.4(G6PC1):c.*3G>A	rs191399793	0.00088
NM_000151.4(G6PC1):c.562+10G>A	rs199505156	0.00085
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)	rs368282218	0.00021
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)	rs149486847	0.00019
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)	rs145172999	0.00013
NM_000151.4(G6PC1):c.447G>A (p.Arg149=)	rs549712764	0.00007
NM_000151.4(G6PC1):c.18T>C (p.Asn6=)	rs144652516	0.00006
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)	rs369472089	0.00006
NM_000151.4(G6PC1):c.446G>A (p.Arg149Gln)	rs181624619	0.00006
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	rs104894565	0.00005
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)	rs764920787	0.00005
NM_000151.4(G6PC1):c.615C>T (p.Ser205=)	rs374522795	0.00005
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)	rs145296477	0.00005
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)	rs202190197	0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)	rs104894567	0.00004
NM_000151.4(G6PC1):c.993G>A (p.Ala331=)	rs369238258	0.00003
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=)	rs776022311	0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)	rs1250172816	0.00002
NM_000151.4(G6PC1):c.340+7G>A	rs570199529	0.00002
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)	rs759982943	0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	rs80356483	0.00002
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)	rs529957748	0.00002
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)	rs779263877	0.00001
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)	rs1057517008	0.00001
NM_000151.4(G6PC1):c.230+1G>C	rs863224023	0.00001
NM_000151.4(G6PC1):c.231-12G>A	rs373908549	0.00001
NM_000151.4(G6PC1):c.231-1G>A	rs1555559279	0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)	rs886052955	0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	rs104894568	0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)	rs777552825	0.00001
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro)	rs775826449	0.00001
NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu)	rs768803329	0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)	rs515726229	0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)	rs80356485	0.00001
NM_000151.4(G6PC1):c.757del (p.Ile253fs)	rs2056092619	0.00001
NM_000151.4(G6PC1):c.798del (p.Thr267fs)	rs749323139	0.00001
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)	rs774212157	0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	rs104894563	0.00001
NM_000151.4(G6PC1):c.884G>A (p.Arg295His)	rs375212414	0.00001
NM_000151.4(G6PC1):c.1004del (p.Leu335fs)	rs2544214539
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)	rs367727229
NM_000151.4(G6PC1):c.136del (p.Leu46fs)	rs1057517227
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)	rs1057516674
NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys)	rs764920787
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro)	rs369472089
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)	rs1567702819
NM_000151.4(G6PC1):c.230+11T>C	rs756151664
NM_000151.4(G6PC1):c.238T>A (p.Phe80Ile)	rs1176780540
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)	rs142917638
NM_000151.4(G6PC1):c.262del (p.Val88fs)	rs755612674
NM_000151.4(G6PC1):c.279C>A (p.Tyr93Ter)	rs2544208887
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)	rs1189630738
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)	rs104894571
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)	rs2056081719
NM_000151.4(G6PC1):c.511del (p.Ile171fs)	rs1597990895
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)	rs1555559991
NM_000151.4(G6PC1):c.54C>A (p.Tyr18Ter)	rs1414234636
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu)	rs104894569
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val)	rs104894569
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter)	rs1485038937
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)	rs80356482
NM_000151.4(G6PC1):c.563-3C>G	rs1597991608
NM_000151.4(G6PC1):c.563G>A (p.Gly188Asp)	rs760981149
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)	rs2056021410
NM_000151.4(G6PC1):c.646C>T (p.Leu216=)	rs749665480
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)	rs1555560128
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)	rs2056092151
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)	rs2056092654
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)	rs1555560149
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)	rs1057516367
NM_000151.4(G6PC1):c.858del (p.Lys287fs)	rs1057516858
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)	rs1567706564
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)	rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)	rs80356486
NM_000151.4(G6PC1):c.993G>C (p.Ala331=)	rs369238258

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