GM2A — 226 ClinVar variants
All ClinVar germline GM2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
8 Pathogenic · 10 Likely pathogenic · 1 Conflicting · 37 Benign · 2 Benign/Likely benign · 55 Likely benign · 113 Uncertain significance
Full GM2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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GM2A p.Gly122Arg
Likely pathogenic
Single submitter
Tay-Sachs disease AB variant
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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GM2A p.Ala188Gly
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Arg169Ser
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Arg180His
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Gly192Val
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Ile103Thr
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Leu4Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GM2A p.Met5Thr
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Pro55Leu
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Pro61Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GM2A p.Tyr132Phe
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Tyr168Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GM2A p.Val173Ile
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Val82Leu
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Ala187Thr
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Ala19Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Ala46Glu
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Asp156Val
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Asp37Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Gln2Arg
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Gln30His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Glu171Gln
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Glu171Val
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Gly143Glu
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Gly166Arg
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Gly192Ser
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Gly62Arg
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Ile193Met
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Ile58Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Ile58Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Leu15Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Leu4Gln
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Lys149Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Lys149Gln
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Met5Leu
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Met69Ile
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Met69Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Pro20Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Ser150Asn
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Ser177Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Ser29Pro
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Ser33Asn
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Val47Met
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Val60Ile
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Val60Leu
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Val68Ala
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
Predictors split 8
The independent predictors disagree with each other — read with care.
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GM2A p.Arg169His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GM2A p.Arg180Ser
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Asp116His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GM2A p.Val85Gly
Uncertain significance
Multiple submitters
Tay-Sachs disease AB variant
-
GM2A p.Arg130Cys
Uncertain significance
Single submitter
Tay-Sachs disease AB variant
-
GM2A p.Lys191Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GM2A p.Ser189Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GM2A p.Thr164Asn Uncertain significance Single submitter
All GM2A variants
Pathogenic 8
- p.Cys112fs Multiple submitters Tay-Sachs disease AB variant
- p.Glu87Ter Single submitter
- p.Gly70fs Single submitter Tay-Sachs disease AB variant
- p.Arg169Pro No assertion criteria Tay-Sachs disease AB variant
- p.Asn63fs No assertion criteria Tay-Sachs disease AB variant
- p.Cys138Arg No assertion criteria Tay-Sachs disease AB variant
- p.Glu54Ter No assertion criteria Tay-Sachs disease AB variant
- p.His137fs No assertion criteria Tay-Sachs disease AB variant
Likely pathogenic 10
- p.Glu123fs Multiple submitters Tay-Sachs disease AB variant
- c.427-14T>A Single submitter Tay-Sachs disease AB variant
- p.Cys138Tyr Single submitter
- p.Gln2Ter Single submitter Tay-Sachs disease AB variant
- p.Gly122Arg Single submitter Tay-Sachs disease AB variant ⚠
- p.Ile58fs Single submitter Tay-Sachs disease AB variant
- p.Leu76fs Single submitter Tay-Sachs disease AB variant
- p.Lys88del Single submitter Tay-Sachs disease AB variant
- c.244-2A>T No assertion criteria Tay-Sachs disease AB variant
- p.Glu158Ter No assertion criteria Tay-Sachs disease AB variant
Conflicting classifications of pathogenicity 1
- p.Cys99Tyr Single submitter ⚠
Benign 37
- c.-102A>G Multiple submitters Tay-Sachs disease AB variant
- c.*144T>C Multiple submitters Tay-Sachs disease AB variant
- c.*227A>G Multiple submitters Tay-Sachs disease AB variant
- c.*28C>T Multiple submitters Tay-Sachs disease AB variant
- c.*401G>A Multiple submitters Tay-Sachs disease AB variant
- p.Ala19Thr Multiple submitters Tay-Sachs disease AB variant
- p.Ile59Val Multiple submitters Tay-Sachs disease AB variant
- p.Met69Val Multiple submitters Tay-Sachs disease AB variant
- p.Ter194= Multiple submitters Tay-Sachs disease AB variant
- p.Val153Ala Multiple submitters Tay-Sachs disease AB variant
- c.243+13dup Single submitter Tay-Sachs disease AB variant
- c.243+144C>G Single submitter
- c.243+301G>A Single submitter
- c.244-6del Single submitter Tay-Sachs disease AB variant
- c.244-6dup Single submitter Tay-Sachs disease AB variant
- c.426+173T>C Single submitter
- c.427-121C>T Single submitter
- c.427-77A>C Single submitter
- c.81+250C>A Single submitter
- c.82-154C>G Single submitter
- c.82-92T>A Single submitter
- c.-44G>A Single submitter Tay-Sachs disease AB variant
- c.*1445G>A Single submitter Tay-Sachs disease AB variant
- c.*1695C>A Single submitter Tay-Sachs disease AB variant
- c.*1829C>T Single submitter Tay-Sachs disease AB variant
- c.*1866C>T Single submitter Tay-Sachs disease AB variant
- c.*1994A>G Single submitter Tay-Sachs disease AB variant
- c.*2141C>T Single submitter Tay-Sachs disease AB variant
- c.*2430T>C Single submitter Tay-Sachs disease AB variant
- c.*2767C>T Single submitter Tay-Sachs disease AB variant
- c.*2801A>G Single submitter Tay-Sachs disease AB variant
- c.*2849G>A Single submitter Tay-Sachs disease AB variant
- c.*536G>T Single submitter Tay-Sachs disease AB variant
- c.*790C>T Single submitter Tay-Sachs disease AB variant
- c.*824C>A Single submitter Tay-Sachs disease AB variant
- c.*938G>A Single submitter Tay-Sachs disease AB variant
- c.*944T>C Single submitter Tay-Sachs disease AB variant
Benign/Likely benign 2
Likely benign 55
- c.*226C>T Multiple submitters Tay-Sachs disease AB variant
- p.Glu87= Multiple submitters Tay-Sachs disease AB variant
- p.Ile59= Multiple submitters Tay-Sachs disease AB variant
- p.Leu174= Multiple submitters Tay-Sachs disease AB variant
- p.Lys26Asn Multiple submitters Tay-Sachs disease AB variant
- c.243+10G>A Single submitter Tay-Sachs disease AB variant
- c.243+8T>C Single submitter Tay-Sachs disease AB variant
- c.243+9G>A Single submitter Tay-Sachs disease AB variant
- c.244-13T>G Single submitter Tay-Sachs disease AB variant
- c.244-15A>T Single submitter Tay-Sachs disease AB variant
- c.244-6T>C Single submitter Tay-Sachs disease AB variant
- c.426+11A>T Single submitter Tay-Sachs disease AB variant
- c.427-12G>A Single submitter Tay-Sachs disease AB variant
- c.427-4G>A Single submitter Tay-Sachs disease AB variant
- c.427-4G>T Single submitter Tay-Sachs disease AB variant
- c.427-6C>T Single submitter Tay-Sachs disease AB variant
- c.427-7C>T Single submitter Tay-Sachs disease AB variant
- c.82-15C>T Single submitter Tay-Sachs disease AB variant
- c.82-17T>C Single submitter Tay-Sachs disease AB variant
- c.82-18C>T Single submitter Tay-Sachs disease AB variant
- c.82-8G>C Single submitter Tay-Sachs disease AB variant
- c.*1312G>T Single submitter Tay-Sachs disease AB variant
- c.*255C>T Single submitter Tay-Sachs disease AB variant
- c.*2643G>T Single submitter Tay-Sachs disease AB variant
- c.*629C>T Single submitter Tay-Sachs disease AB variant
- c.*864C>T Single submitter Tay-Sachs disease AB variant
- p.Ala12= Single submitter Tay-Sachs disease AB variant
- p.Ala19= Single submitter Tay-Sachs disease AB variant
- p.Ala23= Single submitter Tay-Sachs disease AB variant
- p.Ala46= Single submitter Tay-Sachs disease AB variant
- p.Arg130His Single submitter Inborn genetic diseases
- p.Asn167= Single submitter
- p.Gln22Arg Single submitter Inborn genetic diseases
- p.Glu127= Single submitter Tay-Sachs disease AB variant
- p.Gly143= Single submitter Tay-Sachs disease AB variant
- p.Ile186= Single submitter Tay-Sachs disease AB variant
- p.Ile193= Single submitter Tay-Sachs disease AB variant
- p.Leu118= Single submitter Tay-Sachs disease AB variant
- p.Leu13= Single submitter Tay-Sachs disease AB variant
- p.Leu157= Single submitter Tay-Sachs disease AB variant
- p.Leu190= Single submitter Tay-Sachs disease AB variant
- p.Leu9= Single submitter Tay-Sachs disease AB variant
- p.Lys43= Single submitter
- p.Pro28= Single submitter Tay-Sachs disease AB variant
- p.Pro8= Single submitter Tay-Sachs disease AB variant
- p.Ser105= Single submitter Tay-Sachs disease AB variant
- p.Ser150= Single submitter Tay-Sachs disease AB variant
- p.Ser172= Single submitter Tay-Sachs disease AB variant
- p.Ser32Asn Single submitter Inborn genetic diseases
- p.Thr164= Single submitter Tay-Sachs disease AB variant
- p.Thr165= Single submitter Tay-Sachs disease AB variant
- p.Thr65= Single submitter Tay-Sachs disease AB variant
- p.Val114= Single submitter Tay-Sachs disease AB variant
- p.Val64= Single submitter Tay-Sachs disease AB variant
- c.427-22C>T No assertion criteria
Uncertain significance 113
- c.*356C>A Multiple submitters Tay-Sachs disease AB variant
- c.*724G>C Multiple submitters Tay-Sachs disease AB variant
- p.Ala188Gly Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Arg169His Multiple submitters Inborn genetic diseases ⚠
- p.Arg169Ser Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Arg180His Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Arg180Ser Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Asp116His Multiple submitters Inborn genetic diseases ⚠
- p.Gly192Val Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Ile103Thr Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Ile58Phe Multiple submitters Inborn genetic diseases
- p.Leu4Pro Multiple submitters Inborn genetic diseases ⚠
- p.Met5Thr Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Pro55Leu Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Pro61Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr132Phe Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Tyr168Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val173Ile Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Val82Leu Multiple submitters Tay-Sachs disease AB variant ⚠
- p.Val85Gly Multiple submitters Tay-Sachs disease AB variant ⚠
- c.426+6T>C Single submitter Tay-Sachs disease AB variant
- c.427-13G>A Single submitter Tay-Sachs disease AB variant
- c.81+4A>G Single submitter Tay-Sachs disease AB variant
- c.-104T>C Single submitter Tay-Sachs disease AB variant
- c.-7C>G Single submitter Tay-Sachs disease AB variant
- c.-83C>G Single submitter Tay-Sachs disease AB variant
- c.*1068A>G Single submitter Tay-Sachs disease AB variant
- c.*1241T>C Single submitter Tay-Sachs disease AB variant
- c.*1246A>G Single submitter Tay-Sachs disease AB variant
- c.*133C>T Single submitter Tay-Sachs disease AB variant
- c.*1362G>C Single submitter Tay-Sachs disease AB variant
- c.*1410A>C Single submitter Tay-Sachs disease AB variant
- c.*1673A>G Single submitter Tay-Sachs disease AB variant
- c.*1708A>G Single submitter Tay-Sachs disease AB variant
- c.*188A>T Single submitter Tay-Sachs disease AB variant
- c.*1899G>C Single submitter Tay-Sachs disease AB variant
- c.*1927C>G Single submitter Tay-Sachs disease AB variant
- c.*2009A>G Single submitter Tay-Sachs disease AB variant
- c.*2113G>A Single submitter Tay-Sachs disease AB variant
- c.*2206C>T Single submitter Tay-Sachs disease AB variant
- c.*2363C>T Single submitter Tay-Sachs disease AB variant
- c.*241C>T Single submitter Tay-Sachs disease AB variant
- c.*2452A>C Single submitter Tay-Sachs disease AB variant
- c.*245G>A Single submitter Tay-Sachs disease AB variant
- c.*2479C>T Single submitter Tay-Sachs disease AB variant
- c.*2519G>A Single submitter Tay-Sachs disease AB variant
- c.*2529G>A Single submitter Tay-Sachs disease AB variant
- c.*2550C>T Single submitter Tay-Sachs disease AB variant
- c.*257C>G Single submitter Tay-Sachs disease AB variant
- c.*2619C>T Single submitter Tay-Sachs disease AB variant
- c.*2624C>T Single submitter Tay-Sachs disease AB variant
- c.*2695G>A Single submitter Tay-Sachs disease AB variant
- c.*274A>G Single submitter Tay-Sachs disease AB variant
- c.*286C>T Single submitter Tay-Sachs disease AB variant
- c.*352C>G Single submitter Tay-Sachs disease AB variant
- c.*394G>A Single submitter Tay-Sachs disease AB variant
- c.*410C>T Single submitter Tay-Sachs disease AB variant
- c.*426C>T Single submitter Tay-Sachs disease AB variant
- c.*568G>A Single submitter Tay-Sachs disease AB variant
- c.*704T>A Single submitter Tay-Sachs disease AB variant
- c.*860C>T Single submitter Tay-Sachs disease AB variant
- c.*862C>G Single submitter Tay-Sachs disease AB variant
- c.*868T>C Single submitter Tay-Sachs disease AB variant
- c.*903C>T Single submitter Tay-Sachs disease AB variant
- c.*91C>A Single submitter Tay-Sachs disease AB variant
- c.*984A>G Single submitter Tay-Sachs disease AB variant
- p.Ala187Thr Single submitter Tay-Sachs disease AB variant ⚠
- p.Ala19Gly Single submitter Inborn genetic diseases ⚠
- p.Ala46Glu Single submitter Tay-Sachs disease AB variant ⚠
- p.Arg130Cys Single submitter Tay-Sachs disease AB variant ⚠
- p.Arg169Cys Single submitter Tay-Sachs disease AB variant
- p.Arg180Cys Single submitter Tay-Sachs disease AB variant
- p.Arg180Pro Single submitter Tay-Sachs disease AB variant
- p.Asp156Val Single submitter Tay-Sachs disease AB variant ⚠
- p.Asp37Gly Single submitter Inborn genetic diseases ⚠
- p.Gln2Arg Single submitter Tay-Sachs disease AB variant ⚠
- p.Gln30His Single submitter Inborn genetic diseases ⚠
- p.Glu127Lys Single submitter Tay-Sachs disease AB variant
- p.Glu171Gln Single submitter Tay-Sachs disease AB variant ⚠
- p.Glu171Val Single submitter Tay-Sachs disease AB variant ⚠
- p.Gly143Glu Single submitter Tay-Sachs disease AB variant ⚠
- p.Gly166Arg Single submitter Tay-Sachs disease AB variant ⚠
- p.Gly192Ser Single submitter Tay-Sachs disease AB variant ⚠
- p.Gly62Arg Single submitter Tay-Sachs disease AB variant ⚠
- p.Ile193Met Single submitter Tay-Sachs disease AB variant ⚠
- p.Ile58Thr Single submitter Inborn genetic diseases ⚠
- p.Ile58Val Single submitter Inborn genetic diseases ⚠
- p.Leu134_Pro135del Single submitter Tay-Sachs disease AB variant
- p.Leu15Phe Single submitter Inborn genetic diseases ⚠
- p.Leu4Gln Single submitter Tay-Sachs disease AB variant ⚠
- p.Leu93Arg Single submitter Tay-Sachs disease AB variant
- p.Leu93Phe Single submitter Tay-Sachs disease AB variant
- p.Lys149Arg Single submitter Inborn genetic diseases ⚠
- p.Lys149Gln Single submitter Tay-Sachs disease AB variant ⚠
- p.Lys191Asn Single submitter Inborn genetic diseases ⚠
- p.Met1Thr Single submitter
- p.Met5Leu Single submitter Tay-Sachs disease AB variant ⚠
- p.Met69Ala Single submitter Tay-Sachs disease AB variant
- p.Met69Ile Single submitter Tay-Sachs disease AB variant ⚠
- p.Met69Thr Single submitter Inborn genetic diseases ⚠
- p.Pro20Leu Single submitter Inborn genetic diseases ⚠
- p.Ser150Asn Single submitter Tay-Sachs disease AB variant ⚠
- p.Ser175Asn Single submitter Tay-Sachs disease AB variant
- p.Ser177Asn Single submitter Inborn genetic diseases ⚠
- p.Ser189Pro Single submitter Inborn genetic diseases ⚠
- p.Ser29Pro Single submitter Tay-Sachs disease AB variant ⚠
- p.Ser33Asn Single submitter Tay-Sachs disease AB variant ⚠
- p.Ser50Arg Single submitter Inborn genetic diseases
- p.Thr164Asn Single submitter ⚠
- p.Val47Met Single submitter Tay-Sachs disease AB variant ⚠
- p.Val60Ile Single submitter Tay-Sachs disease AB variant ⚠
- p.Val60Leu Single submitter Tay-Sachs disease AB variant ⚠
- p.Val68Ala Single submitter Tay-Sachs disease AB variant ⚠