DSC3 — 189 ClinVar variants
All ClinVar germline DSC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 2 Conflicting · 51 Benign · 13 Likely benign · 114 Uncertain significance
Full DSC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DSC3 p.Ala215Val Uncertain significance Single submitter
- DSC3 p.Ala359Ser Uncertain significance Single submitter
- DSC3 p.Ala795Pro Uncertain significance Single submitter
- DSC3 p.Arg135Gly Uncertain significance Single submitter
- DSC3 p.Arg455Thr Uncertain significance Single submitter
- DSC3 p.Arg479Gln Uncertain significance Single submitter
- DSC3 p.Arg678His Uncertain significance Single submitter
- DSC3 p.Arg722Cys Uncertain significance Single submitter
- DSC3 p.Arg722His Uncertain significance Single submitter
- DSC3 p.Arg7Pro Uncertain significance Single submitter
- DSC3 p.Asn392Ser Uncertain significance Single submitter
- DSC3 p.Asn432Asp Uncertain significance Single submitter
- DSC3 p.Asn438Lys Uncertain significance Single submitter
- DSC3 p.Asn813Ser Uncertain significance Single submitter
- DSC3 p.Asp312Glu Uncertain significance Single submitter
- DSC3 p.Asp317Glu Uncertain significance Single submitter
- DSC3 p.Asp743Asn Uncertain significance Single submitter
- DSC3 p.Asp743Val Uncertain significance Single submitter
- DSC3 p.Cys471Arg Uncertain significance Single submitter
- DSC3 p.Gln158Arg Uncertain significance Single submitter
- DSC3 p.Glu245Lys Uncertain significance Single submitter
- DSC3 p.Glu254Ala Uncertain significance Single submitter
- DSC3 p.Glu543Gln Uncertain significance Single submitter
- DSC3 p.Gly193Glu Uncertain significance Single submitter
- DSC3 p.Gly259Val Uncertain significance Single submitter
- DSC3 p.Gly263Arg Uncertain significance Single submitter
- DSC3 p.Gly741Ala Uncertain significance Single submitter
- DSC3 p.His17Arg Uncertain significance Single submitter
- DSC3 p.His240Gln Uncertain significance Single submitter
- DSC3 p.His461Arg Uncertain significance Single submitter
- DSC3 p.Ile140Leu Uncertain significance Single submitter
- DSC3 p.Ile373Thr Uncertain significance Single submitter
- DSC3 p.Ile648Thr Uncertain significance Single submitter
- DSC3 p.Ile700Thr Uncertain significance Single submitter
- DSC3 p.Ile779Val Uncertain significance Single submitter
- DSC3 p.Leu253Val Uncertain significance Single submitter
- DSC3 p.Leu37Pro Uncertain significance Single submitter
- DSC3 p.Leu702Gln Uncertain significance Single submitter
- DSC3 p.Lys772Glu Uncertain significance Single submitter
- DSC3 p.Lys783Ile Uncertain significance Single submitter
- DSC3 p.Met276Thr Uncertain significance Single submitter
- DSC3 p.Met323Ile Uncertain significance Single submitter
- DSC3 p.Met328Thr Uncertain significance Single submitter
- DSC3 p.Phe186Ser Uncertain significance Single submitter
- DSC3 p.Phe209Ser Uncertain significance Single submitter
- DSC3 p.Pro182His Uncertain significance Single submitter
- DSC3 p.Pro230Leu Uncertain significance Single submitter
- DSC3 p.Pro617Leu Uncertain significance Single submitter
- DSC3 p.Pro674Ser Uncertain significance Single submitter
- DSC3 p.Ser636Pro Uncertain significance Single submitter
- DSC3 p.Ser769Pro Uncertain significance Single submitter
- DSC3 p.Thr125Ala Uncertain significance Single submitter
- DSC3 p.Thr192Ser Uncertain significance Single submitter
- DSC3 p.Thr718Asn Uncertain significance Single submitter
- DSC3 p.Thr753Ser Uncertain significance Single submitter
- DSC3 p.Thr809Met Uncertain significance Single submitter
- DSC3 p.Thr817Ala Uncertain significance Single submitter
- DSC3 p.Tyr609Asp Uncertain significance Single submitter
- DSC3 p.Val252Ala Uncertain significance Single submitter
- DSC3 p.Val264Met Uncertain significance Single submitter
- DSC3 p.Val460Ala Uncertain significance Single submitter
- DSC3 p.Val686Ile Uncertain significance Single submitter
- DSC3 p.Val745Leu Uncertain significance Single submitter
- DSC3 p.Val811Met Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- DSC3 p.Ala164Thr Uncertain significance Single submitter
- DSC3 p.Ala45Thr Uncertain significance Single submitter
- DSC3 p.Arg131Ser Uncertain significance Single submitter
- DSC3 p.Arg176Cys Uncertain significance Single submitter
- DSC3 p.Arg199Leu Uncertain significance Single submitter
- DSC3 p.Arg279Cys Uncertain significance Single submitter
- DSC3 p.Arg429His Likely benign Single submitter
- DSC3 p.Arg463Gly Uncertain significance Single submitter
- DSC3 p.Arg479Leu Uncertain significance Single submitter
- DSC3 p.Arg557Ile Uncertain significance Single submitter
- DSC3 p.Arg634Cys Uncertain significance Single submitter
- DSC3 p.Arg678Cys Uncertain significance Single submitter
- DSC3 p.Arg793Leu Uncertain significance Single submitter
- DSC3 p.Arg828Cys Uncertain significance Single submitter
- DSC3 p.Asp521Asn Uncertain significance Single submitter
- DSC3 p.Asp802Val Uncertain significance Single submitter
- DSC3 p.Cys341Ser Uncertain significance Single submitter
- DSC3 p.Gln157Glu Uncertain significance Single submitter
- DSC3 p.Gly516Val Uncertain significance Single submitter
- DSC3 p.Gly685Arg Uncertain significance Single submitter
- DSC3 p.Gly806Arg Uncertain significance Single submitter
- DSC3 p.His403Gln Uncertain significance Single submitter
- DSC3 p.Ile480Met Uncertain significance Single submitter
- DSC3 p.Ile532Asn Uncertain significance Single submitter
- DSC3 p.Ile567Thr Uncertain significance Single submitter
- DSC3 p.Ile734Lys Uncertain significance Single submitter
- DSC3 p.Ile779Thr Uncertain significance Single submitter
- DSC3 p.Ile96Met Uncertain significance Single submitter
- DSC3 p.Leu801Arg Uncertain significance Single submitter
- DSC3 p.Lys381Asn Uncertain significance Single submitter
- DSC3 p.Lys397Thr Uncertain significance Single submitter
- DSC3 p.Lys509Asn Uncertain significance Single submitter
- DSC3 p.Phe723Leu Uncertain significance Single submitter
- DSC3 p.Pro469Leu Uncertain significance Single submitter
- DSC3 p.Pro613Arg Uncertain significance Single submitter
- DSC3 p.Ser418Pro Uncertain significance Single submitter
- DSC3 p.Ser611Gly Uncertain significance Single submitter
- DSC3 p.Ser624Gly Uncertain significance Single submitter
- DSC3 p.Ser819Leu Uncertain significance Single submitter
- DSC3 p.Thr278Met Uncertain significance Single submitter
- DSC3 p.Thr394Ala Uncertain significance Single submitter
- DSC3 p.Thr408Ala Uncertain significance Single submitter
- DSC3 p.Thr529Ala Uncertain significance Single submitter
- DSC3 p.Thr562Ser Uncertain significance Single submitter
- DSC3 p.Tyr545Cys Uncertain significance Single submitter
- DSC3 p.Tyr545His Uncertain significance Single submitter
- DSC3 p.Tyr609Cys Uncertain significance Single submitter
- DSC3 p.Val109Gly Uncertain significance Single submitter
- DSC3 p.Val458Leu Uncertain significance Single submitter
-
DSC3 p.Arg199Trp
Benign
No assertion criteria
DSC3-related disorder
-
DSC3 p.Pro740Ser
Likely benign
No assertion criteria
DSC3-related disorder
All DSC3 variants
Pathogenic 2
- p.Leu710Ter No assertion criteria hereditary hypotrichosis with recurrent skin vesicles
- p.Leu727Ter No assertion criteria hereditary hypotrichosis with recurrent skin vesicles
Pathogenic/Likely pathogenic 1
- p.Asp409fs Multiple submitters
Likely pathogenic 6
- c.2236-2A>G Multiple submitters hereditary hypotrichosis with recurrent skin vesicles
- c.2236-1G>T Single submitter
- c.2493+1G>A Single submitter hereditary hypotrichosis with recurrent skin vesicles
- p.Arg375Ter Single submitter hereditary hypotrichosis with recurrent skin vesicles
- p.Glu427fs Single submitter hereditary hypotrichosis with recurrent skin vesicles
- p.Glu820Ter Single submitter hereditary hypotrichosis with recurrent skin vesicles
Conflicting classifications of pathogenicity 2
- p.Asn504Ser Single submitter ⚠
- p.Gly830Ser Single submitter ⚠
Benign 51
- c.1263+106A>G Multiple submitters
- c.1264-46G>A Multiple submitters
- c.155-1= Multiple submitters
- c.1664-83A>G Multiple submitters
- c.2113+81G>T Multiple submitters
- c.2235+142A>G Multiple submitters
- c.2494-134C>T Multiple submitters
- c.2494-219A>C Multiple submitters
- c.354+52T>C Multiple submitters
- c.354+62T>G Multiple submitters
- c.630+11T>A Multiple submitters
- c.69+34G>A Multiple submitters
- c.942+118T>C Multiple submitters
- c.942+18T>C Multiple submitters
- c.*144A>G Multiple submitters
- p.Ala28Asp Multiple submitters
- p.Arg102Lys Multiple submitters
- p.Lys180Gln Multiple submitters
- p.Pro599= Multiple submitters
- p.Ser78Thr Multiple submitters
- p.Ser819= Multiple submitters
- p.Thr275= Multiple submitters
- c.1264-245G>A Single submitter
- c.155-282del Single submitter
- c.1664-180G>C Single submitter
- c.1888+253A>G Single submitter
- c.1888+327T>C Single submitter
- c.1889-224C>A Single submitter
- c.2113+127A>G Single submitter
- c.2113+170A>C Single submitter
- c.2113+238A>G Single submitter
- c.2236-265G>C Single submitter
- c.2236-301G>T Single submitter
- c.2493+224T>G Single submitter
- c.2494-176del Single submitter
- c.354+32dup Single submitter
- c.355-176G>A Single submitter
- c.474+255G>A Single submitter
- c.474+271A>G Single submitter
- c.475-229A>G Single submitter
- c.630+234A>T Single submitter
- c.70-278_70-277del Single submitter
- c.70-278T>C Single submitter
- c.775+211C>T Single submitter
- c.776-300G>T Single submitter
- c.943-106CA[2] Single submitter
- c.943-312G>A Single submitter
- c.943-86_943-85del Single submitter
- c.*259_*260dup Single submitter
- c.*260dup Single submitter
- p.Arg199Trp No assertion criteria DSC3-related disorder ⚠
Likely benign 13
- p.Ala441Val Single submitter
- p.Ala795fs Single submitter
- p.Ala86Val Single submitter
- p.Arg199Gln Single submitter
- p.Arg27Ser Single submitter
- p.Arg429His Single submitter ⚠
- p.Ile648Val Single submitter
- p.Lys541Arg Single submitter
- p.Trp97Arg Single submitter
- p.Val10Leu Single submitter
- p.Asn491= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Lys324= No assertion criteria DSC3-related disorder
- p.Pro740Ser No assertion criteria DSC3-related disorder ⚠
Uncertain significance 114
- c.2494-108A>C Single submitter
- c.2494-114G>C Single submitter
- p.Ala164Thr Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Ala359Ser Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala795Pro Single submitter ⚠
- p.Arg131Ser Single submitter ⚠
- p.Arg135Gly Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg199Leu Single submitter ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg455Thr Single submitter ⚠
- p.Arg463Gly Single submitter ⚠
- p.Arg479Gln Single submitter ⚠
- p.Arg479Leu Single submitter ⚠
- p.Arg557Ile Single submitter ⚠
- p.Arg634Cys Single submitter ⚠
- p.Arg678Cys Single submitter ⚠
- p.Arg678His Single submitter ⚠
- p.Arg722Cys Single submitter ⚠
- p.Arg722His Single submitter ⚠
- p.Arg793Leu Single submitter ⚠
- p.Arg7Pro Single submitter ⚠
- p.Arg828Cys Single submitter ⚠
- p.Asn392Ser Single submitter ⚠
- p.Asn432Asp Single submitter ⚠
- p.Asn438Lys Single submitter ⚠
- p.Asn813Ser Single submitter ⚠
- p.Asp312Glu Single submitter ⚠
- p.Asp317Glu Single submitter ⚠
- p.Asp521Asn Single submitter ⚠
- p.Asp743Asn Single submitter ⚠
- p.Asp743Val Single submitter ⚠
- p.Asp802Val Single submitter ⚠
- p.Cys341Ser Single submitter ⚠
- p.Cys471Arg Single submitter ⚠
- p.Gln157Glu Single submitter ⚠
- p.Gln158Arg Single submitter ⚠
- p.Glu245Lys Single submitter ⚠
- p.Glu254Ala Single submitter ⚠
- p.Glu543Gln Single submitter ⚠
- p.Gly193Glu Single submitter ⚠
- p.Gly259Val Single submitter ⚠
- p.Gly263Arg Single submitter ⚠
- p.Gly516Val Single submitter ⚠
- p.Gly685Arg Single submitter ⚠
- p.Gly741Ala Single submitter ⚠
- p.Gly806Arg Single submitter ⚠
- p.His17Arg Single submitter ⚠
- p.His240Gln Single submitter ⚠
- p.His403Gln Single submitter ⚠
- p.His461Arg Single submitter ⚠
- p.Ile140Leu Single submitter ⚠
- p.Ile373Thr Single submitter ⚠
- p.Ile480Met Single submitter ⚠
- p.Ile532Asn Single submitter ⚠
- p.Ile567Thr Single submitter ⚠
- p.Ile648Thr Single submitter ⚠
- p.Ile700Thr Single submitter ⚠
- p.Ile734Lys Single submitter ⚠
- p.Ile779Thr Single submitter ⚠
- p.Ile779Val Single submitter ⚠
- p.Ile96Met Single submitter ⚠
- p.Leu253Val Single submitter ⚠
- p.Leu37Pro Single submitter ⚠
- p.Leu702Gln Single submitter ⚠
- p.Leu801Arg Single submitter ⚠
- p.Lys381Asn Single submitter ⚠
- p.Lys397Thr Single submitter ⚠
- p.Lys509Asn Single submitter ⚠
- p.Lys772Glu Single submitter ⚠
- p.Lys783Ile Single submitter ⚠
- p.Met276Thr Single submitter ⚠
- p.Met323Ile Single submitter ⚠
- p.Met328Thr Single submitter ⚠
- p.Phe186Ser Single submitter ⚠
- p.Phe209Ser Single submitter ⚠
- p.Phe723Leu Single submitter ⚠
- p.Pro182His Single submitter ⚠
- p.Pro230Leu Single submitter ⚠
- p.Pro469Leu Single submitter ⚠
- p.Pro613Arg Single submitter ⚠
- p.Pro617Leu Single submitter ⚠
- p.Pro674Ser Single submitter ⚠
- p.Ser418Pro Single submitter ⚠
- p.Ser611Gly Single submitter ⚠
- p.Ser624Gly Single submitter ⚠
- p.Ser636Pro Single submitter ⚠
- p.Ser769Pro Single submitter ⚠
- p.Ser819Leu Single submitter ⚠
- p.Thr125Ala Single submitter ⚠
- p.Thr192Ser Single submitter ⚠
- p.Thr278Met Single submitter ⚠
- p.Thr394Ala Single submitter ⚠
- p.Thr408Ala Single submitter ⚠
- p.Thr529Ala Single submitter ⚠
- p.Thr562Ser Single submitter ⚠
- p.Thr718Asn Single submitter ⚠
- p.Thr753Ser Single submitter ⚠
- p.Thr809Met Single submitter ⚠
- p.Thr817Ala Single submitter ⚠
- p.Tyr545Cys Single submitter ⚠
- p.Tyr545His Single submitter ⚠
- p.Tyr609Asp Single submitter ⚠
- p.Tyr609Cys Single submitter ⚠
- p.Val109Gly Single submitter ⚠
- p.Val252Ala Single submitter ⚠
- p.Val264Met Single submitter ⚠
- p.Val458Leu Single submitter ⚠
- p.Val460Ala Single submitter ⚠
- p.Val686Ile Single submitter ⚠
- p.Val745Leu Single submitter ⚠
- p.Val811Met Single submitter ⚠