ClinVar Miner

Variants in gene SPAST with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

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
1333 121 0 71 12 1 31 103

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.

pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 54 15 3 2 1 1
likely pathogenic 54 0 17 2 1 1 1
uncertain significance 14 16 0 12 3 0 0
likely benign 2 1 12 0 17 0 0
benign 1 0 3 17 0 0 0

All variants with conflicting interpretations #

Total variants: 103
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00501
NM_014946.4(SPAST):c.1493+18G>T rs189961829 0.00230
NM_014946.4(SPAST):c.865C>T (p.His289Tyr) rs74688377 0.00198
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_014946.4(SPAST):c.415+12G>A rs539075273 0.00115
NM_014946.4(SPAST):c.683-9C>T rs202209866 0.00109
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00062
NM_014946.4(SPAST):c.1493+6G>A rs115659052 0.00043
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr) rs372005558 0.00029
NM_014946.4(SPAST):c.1593A>G (p.Gln531=) rs754291673 0.00023
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00021
NM_014946.4(SPAST):c.30G>A (p.Lys10=) rs768928614 0.00005
NM_014946.4(SPAST):c.832G>A (p.Val278Met) rs369908571 0.00005
NM_014946.4(SPAST):c.441A>G (p.Glu147=) rs375027118 0.00004
NM_014946.4(SPAST):c.1077T>C (p.Ile359=) rs570106557 0.00002
NM_014946.4(SPAST):c.631G>A (p.Val211Ile) rs143003434 0.00002
NM_014946.4(SPAST):c.828T>C (p.Ser276=) rs77525846 0.00002
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu) rs773193617 0.00002
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp) rs542793579 0.00001
NM_014946.4(SPAST):c.137A>G (p.His46Arg) rs778952334 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_014946.4(SPAST):c.1817G>A (p.Arg606His) rs768077366 0.00001
NM_014946.4(SPAST):c.626C>T (p.Thr209Met) rs537855621 0.00001
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
NM_014946.4(SPAST):c.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1173G>A (p.Leu391=) rs1679218212
NM_014946.4(SPAST):c.1174-1G>A rs1553317024
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del) rs1553317028
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.4(SPAST):c.1210_1212del (p.Phe404del) rs1679265391
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1245+5G>A rs1553317049
NM_014946.4(SPAST):c.1245+6T>G rs1553317050
NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr) rs2148753672
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1307C>T (p.Ser436Phe) rs1553318184
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser) rs2148753950
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys) rs1679556566
NM_014946.4(SPAST):c.1396C>G (p.Leu466Val) rs1553318252
NM_014946.4(SPAST):c.1413+1_1413+2del rs1679558544
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.1413+6T>C rs1553318284
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs) rs864622268
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.4(SPAST):c.1457C>T (p.Thr486Ile) rs1558337122
NM_014946.4(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.4(SPAST):c.1478A>C (p.Asp493Ala)
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser) rs1060502228
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly) rs1553318350
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1501A>C (p.Ile501Leu) rs1057519108
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.4(SPAST):c.1508G>A (p.Arg503Gln) rs1553319087
NM_014946.4(SPAST):c.1525C>T (p.Pro509Ser) rs1553319092
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.4(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp) rs1553319093
NM_014946.4(SPAST):c.1537-11A>G rs549538513
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser) rs2148759388
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs) rs1553319298
NM_014946.4(SPAST):c.1616+1G>A rs1553319327
NM_014946.4(SPAST):c.1616+5G>A rs2148759485
NM_014946.4(SPAST):c.1634C>T (p.Ser545Leu) rs869312949
NM_014946.4(SPAST):c.1636G>A (p.Gly546Arg)
NM_014946.4(SPAST):c.166_175del (p.Tyr55_Pro56insTer) rs1553394509
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr) rs138146982
NM_014946.4(SPAST):c.1728+1G>A rs587777754
NM_014946.4(SPAST):c.1728+2T>G rs1553319874
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro) rs749484350
NM_014946.4(SPAST):c.1744T>C (p.Leu582=) rs886055962
NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro) rs1131691972
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer) rs1680185365
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.1840dup (p.Thr614fs) rs2465946747
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu) rs1553321270
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter) rs746263735
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.4(SPAST):c.519A>G (p.Arg173=) rs1677627735
NM_014946.4(SPAST):c.586+9_586+12del rs554544808
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs) rs1676388641
NM_014946.4(SPAST):c.806dup (p.Tyr269Ter) rs2465835384
NM_014946.4(SPAST):c.839_840del (p.Gln280fs) rs1678762730
NM_014946.4(SPAST):c.871-1G>A rs1057524526
NM_014946.4(SPAST):c.911del (p.Pro304fs) rs1553315188
NM_014946.4(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_014946.4(SPAST):c.982dup (p.Ile328fs) rs2465838759
Single allele

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