DISC1 — 136 ClinVar variants
All ClinVar germline DISC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →
1 Conflicting · 14 Benign · 36 Likely benign · 85 Uncertain significance
Full DISC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 88
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 lean, ClinVar uncertain 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DISC1 p.Ala220Val Uncertain significance Single submitter
- DISC1 p.Ala235Ser Uncertain significance Single submitter
- DISC1 p.Ala250Ser Uncertain significance Single submitter
- DISC1 p.Ala659Val Uncertain significance Single submitter
- DISC1 p.Arg127Gly Uncertain significance Single submitter
- DISC1 p.Arg417Ser Uncertain significance Single submitter
- DISC1 p.Arg575Lys Uncertain significance Single submitter
- DISC1 p.Asp258Asn Uncertain significance Single submitter
- DISC1 p.Asp296Gly Uncertain significance Single submitter
- DISC1 p.Asp339Glu Uncertain significance Single submitter
- DISC1 p.Asp606His Uncertain significance Single submitter
- DISC1 p.Cys565Phe Uncertain significance Single submitter
- DISC1 p.Cys565Tyr Uncertain significance Single submitter
- DISC1 p.Gln500Glu Uncertain significance Single submitter
- DISC1 p.Gln584Arg Uncertain significance Single submitter
- DISC1 p.Glu74Lys Uncertain significance Single submitter
- DISC1 p.Glu751Ala Uncertain significance Single submitter
- DISC1 p.Gly14Arg Uncertain significance Single submitter
- DISC1 p.Gly14Ser Uncertain significance Single submitter
- DISC1 p.Gly314Val Uncertain significance Single submitter
- DISC1 p.Gly426Arg Uncertain significance Single submitter
- DISC1 p.Gly51Ala Uncertain significance Single submitter
- DISC1 p.Gly55Arg Uncertain significance Single submitter
- DISC1 p.Gly688Glu Uncertain significance Single submitter
- DISC1 p.His256Arg Uncertain significance Single submitter
- DISC1 p.His256Asp Uncertain significance Single submitter
- DISC1 p.His407Tyr Uncertain significance Single submitter
- DISC1 p.His600Asn Uncertain significance Single submitter
- DISC1 p.Ile54Ser Uncertain significance Single submitter
- DISC1 p.Leu383Pro Uncertain significance Single submitter
- DISC1 p.Lys577Glu Uncertain significance Single submitter
- DISC1 p.Lys643Gln Uncertain significance Single submitter
- DISC1 p.Pro197Ala Uncertain significance Single submitter
- DISC1 p.Pro199Thr Uncertain significance Single submitter
-
DISC1 p.Pro231Ser
Uncertain significance
Single submitter
DISC1-related disorder
- DISC1 p.Pro259Leu Uncertain significance Single submitter
- DISC1 p.Pro437Leu Uncertain significance Single submitter
- DISC1 p.Pro506Ser Uncertain significance Single submitter
- DISC1 p.Pro734Arg Uncertain significance Single submitter
- DISC1 p.Ser153Pro Uncertain significance Single submitter
- DISC1 p.Ser186Arg Uncertain significance Single submitter
- DISC1 p.Ser389Gly Uncertain significance Single submitter
- DISC1 p.Ser663Asn Uncertain significance Single submitter
- DISC1 p.Ser79Leu Uncertain significance Single submitter
- DISC1 p.Thr155Ser Uncertain significance Single submitter
- DISC1 p.Thr375Ser Uncertain significance Single submitter
- DISC1 p.Thr429Ser Uncertain significance Single submitter
- DISC1 p.Thr573Asn Uncertain significance Single submitter
- DISC1 p.Thr583Asn Uncertain significance Single submitter
- DISC1 p.Val273Leu Uncertain significance Single submitter
- DISC1 p.Val336Leu Uncertain significance Single submitter
- DISC1 p.Val636Ile Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
-
DISC1 p.Cys187Tyr
Uncertain significance
Multiple submitters
DISC1-related disorder
- DISC1 p.Leu330Phe Benign Multiple submitters
- DISC1 p.Ala13Thr Uncertain significance Single submitter
- DISC1 p.Arg214Trp Uncertain significance Single submitter
- DISC1 p.Arg223Cys Uncertain significance Single submitter
- DISC1 p.Arg272Trp Uncertain significance Single submitter
- DISC1 p.Arg289Cys Likely benign Single submitter
- DISC1 p.Arg345Trp Uncertain significance Single submitter
- DISC1 p.Arg346Gly Uncertain significance Single submitter
- DISC1 p.Arg37Trp Uncertain significance Single submitter
- DISC1 p.Arg417Cys Uncertain significance Single submitter
- DISC1 p.Arg418Cys Uncertain significance Single submitter
-
DISC1 p.Arg454Ile
Uncertain significance
Single submitter
DISC1-related disorder
- DISC1 p.Arg66Trp Conflicting Single submitter
- DISC1 p.Asp327Gly Uncertain significance Single submitter
- DISC1 p.Asp339Asn Uncertain significance Single submitter
- DISC1 p.Asp369His Uncertain significance Single submitter
- DISC1 p.Asp503Asn Uncertain significance Single submitter
- DISC1 p.Asp580Asn Uncertain significance Single submitter
- DISC1 p.Cys86Tyr Uncertain significance Single submitter
- DISC1 p.Glu470Lys Uncertain significance Single submitter
- DISC1 p.Ile596Thr Uncertain significance Single submitter
- DISC1 p.Leu639Pro Uncertain significance Single submitter
- DISC1 p.Leu649Pro Uncertain significance Single submitter
- DISC1 p.Phe210Ser Uncertain significance Single submitter
- DISC1 p.Phe535Leu Likely benign Single submitter
- DISC1 p.Pro540Arg Uncertain significance Single submitter
- DISC1 p.Pro586Ala Likely benign Single submitter
- DISC1 p.Ser110Phe Uncertain significance Single submitter
- DISC1 p.Ser204Asn Uncertain significance Single submitter
- DISC1 p.Ser317Asn Uncertain significance Single submitter
- DISC1 p.Thr615Ile Uncertain significance Single submitter
- DISC1 p.Trp499Cys Uncertain significance Single submitter
- DISC1 p.Val18Met Uncertain significance Single submitter
-
DISC1 p.Gln498Pro
Uncertain significance
No assertion criteria
DISC1-related disorder
-
DISC1 p.Thr453Met
Benign
No assertion criteria
DISC1-related disorder
All DISC1 variants
Conflicting classifications of pathogenicity 1
- p.Arg66Trp Single submitter ⚠
Benign 14
- p.Arg170Cys Multiple submitters
- p.Arg345Gln Multiple submitters
- p.Glu751Gln Multiple submitters
- p.Leu330Phe Multiple submitters ⚠
- p.Asn185= Single submitter
- p.Gly531Arg Single submitter
- p.His449= Single submitter
- p.Ile452= Single submitter
- p.Val71Leu Single submitter
- c.1981+48069C>G No assertion criteria DISC1-related disorder
- p.Ala116Val No assertion criteria DISC1-related disorder
- p.His755Tyr No assertion criteria DISC1-related disorder
- p.Leu465= No assertion criteria DISC1-related disorder
- p.Thr453Met No assertion criteria DISC1-related disorder ⚠
Likely benign 36
- p.Pro432Leu Multiple submitters
- c.1634+7C>G Single submitter
- c.1981+36262A>G Single submitter
- p.Ala835= Single submitter
- p.Arg214Gln Single submitter
- p.Arg289Cys Single submitter ⚠
- p.Gly254Arg Single submitter
- p.His238Pro Single submitter
- p.Leu305Pro Single submitter
- p.Leu330= Single submitter
- p.Leu790= Single submitter
- p.Leu93Pro Single submitter
- p.Phe535Leu Single submitter ⚠
- p.Pro135Leu Single submitter
- p.Pro287Leu Single submitter
- p.Pro586Ala Single submitter ⚠
- p.Ser318= Single submitter
- p.Ser556= Single submitter
- p.Ser626Asn Single submitter
- p.Thr375= Single submitter
- p.Thr375Met Single submitter
- p.Thr542Ala Single submitter
- p.Trp160Leu Single submitter
- p.Val849= Single submitter
- c.1117+18828G>A No assertion criteria DISC1-related disorder
- c.1634+13T>G No assertion criteria DISC1-related disorder
- c.1982-9T>C No assertion criteria DISC1-related disorder
- c.67+4G>A No assertion criteria DISC1-related disorder
- p.Ala13Gly No assertion criteria DISC1-related disorder
- p.Ala659= No assertion criteria DISC1-related disorder
- p.Asp724= No assertion criteria DISC1-related disorder
- p.Glu834= No assertion criteria DISC1-related disorder
- p.Gly14= No assertion criteria DISC1-related disorder
- p.Gly765= No assertion criteria DISC1-related disorder
- p.Pro230= No assertion criteria DISC1-related disorder
- p.Thr114= No assertion criteria DISC1-related disorder
Uncertain significance 85
- p.Cys187Tyr Multiple submitters DISC1-related disorder ⚠
- p.Ala13Thr Single submitter ⚠
- p.Ala220Val Single submitter ⚠
- p.Ala235Ser Single submitter ⚠
- p.Ala250Ser Single submitter ⚠
- p.Ala659Val Single submitter ⚠
- p.Arg127Gly Single submitter ⚠
- p.Arg214Trp Single submitter ⚠
- p.Arg223Cys Single submitter ⚠
- p.Arg272Trp Single submitter ⚠
- p.Arg345Trp Single submitter ⚠
- p.Arg346Gly Single submitter ⚠
- p.Arg37Trp Single submitter ⚠
- p.Arg417Cys Single submitter ⚠
- p.Arg417Ser Single submitter ⚠
- p.Arg418Cys Single submitter ⚠
- p.Arg454Ile Single submitter DISC1-related disorder ⚠
- p.Arg575Lys Single submitter ⚠
- p.Asp258Asn Single submitter ⚠
- p.Asp296Gly Single submitter ⚠
- p.Asp327Gly Single submitter ⚠
- p.Asp339Asn Single submitter ⚠
- p.Asp339Glu Single submitter ⚠
- p.Asp369His Single submitter ⚠
- p.Asp503Asn Single submitter ⚠
- p.Asp580Asn Single submitter ⚠
- p.Asp606His Single submitter ⚠
- p.Cys565Phe Single submitter ⚠
- p.Cys565Tyr Single submitter ⚠
- p.Cys86Tyr Single submitter ⚠
- p.Gln485Ter Single submitter
- p.Gln500Glu Single submitter ⚠
- p.Gln584Arg Single submitter ⚠
- p.Glu470Lys Single submitter ⚠
- p.Glu74Lys Single submitter ⚠
- p.Glu751Ala Single submitter ⚠
- p.Gly14Arg Single submitter ⚠
- p.Gly14Ser Single submitter ⚠
- p.Gly314Val Single submitter ⚠
- p.Gly426Arg Single submitter ⚠
- p.Gly51Ala Single submitter ⚠
- p.Gly55Arg Single submitter ⚠
- p.Gly688Glu Single submitter ⚠
- p.His256Arg Single submitter ⚠
- p.His256Asp Single submitter ⚠
- p.His407Tyr Single submitter ⚠
- p.His600Asn Single submitter ⚠
- p.Ile54Ser Single submitter ⚠
- p.Ile596Thr Single submitter ⚠
- p.Ile773= Single submitter DISC1-related disorder
- p.Leu383Pro Single submitter ⚠
- p.Leu639Pro Single submitter ⚠
- p.Leu649Pro Single submitter ⚠
- p.Lys577Glu Single submitter ⚠
- p.Lys643Gln Single submitter ⚠
- p.Phe206fs Single submitter
- p.Phe210Ser Single submitter ⚠
- p.Pro197Ala Single submitter ⚠
- p.Pro199Thr Single submitter ⚠
- p.Pro231Ser Single submitter DISC1-related disorder ⚠
- p.Pro259Leu Single submitter ⚠
- p.Pro437Leu Single submitter ⚠
- p.Pro506Ser Single submitter ⚠
- p.Pro540Arg Single submitter ⚠
- p.Pro734Arg Single submitter ⚠
- p.Ser110Phe Single submitter ⚠
- p.Ser153Pro Single submitter ⚠
- p.Ser186Arg Single submitter ⚠
- p.Ser204Asn Single submitter ⚠
- p.Ser317Asn Single submitter ⚠
- p.Ser389Gly Single submitter ⚠
- p.Ser663Asn Single submitter ⚠
- p.Ser79Leu Single submitter ⚠
- p.Thr155Ser Single submitter ⚠
- p.Thr375Ser Single submitter ⚠
- p.Thr429Ser Single submitter ⚠
- p.Thr573Asn Single submitter ⚠
- p.Thr583Asn Single submitter ⚠
- p.Thr615Ile Single submitter ⚠
- p.Trp499Cys Single submitter ⚠
- p.Val18Met Single submitter ⚠
- p.Val273Leu Single submitter ⚠
- p.Val336Leu Single submitter ⚠
- p.Val636Ile Single submitter ⚠
- p.Gln498Pro No assertion criteria DISC1-related disorder ⚠