DISP3 — 55 ClinVar variants
All ClinVar germline DISP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
20 Benign · 21 Likely benign · 14 Uncertain significance
Full DISP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DISP3 p.Arg1024Gln Uncertain significance Single submitter
- DISP3 p.Glu1064Lys Uncertain significance Single submitter
- DISP3 p.Glu211Asp Uncertain significance Single submitter
- DISP3 p.Gly41Arg Uncertain significance Single submitter
- DISP3 p.Leu893Pro Uncertain significance Single submitter
- DISP3 p.Met888Val Uncertain significance Single submitter
- DISP3 p.Pro195Leu Uncertain significance Single submitter
- DISP3 p.Ser1041Gly Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- DISP3 p.Arg542His Likely benign Multiple submitters
- DISP3 p.Asp549Gly Uncertain significance Single submitter
- DISP3 p.Leu1357Phe Uncertain significance Single submitter
- DISP3 p.Pro856Ser Uncertain significance Single submitter
- DISP3 p.Val654Phe Uncertain significance Single submitter
- DISP3 p.Val860Ala Uncertain significance Single submitter
-
DISP3 p.Thr3Met
Benign
No assertion criteria
DISP3-related disorder
All DISP3 variants
Benign 20
- c.2477-4G>A Multiple submitters
- p.Ala215Ser Multiple submitters
- p.Asn579= Multiple submitters
- p.Gln825Glu Multiple submitters
- p.Leu51Val Multiple submitters
- p.Ser1229= Multiple submitters
- p.Ala1297= No assertion criteria DISP3-related disorder
- p.Ala650Thr No assertion criteria DISP3-related disorder
- p.Asn70Asp No assertion criteria DISP3-related disorder
- p.Asp532= No assertion criteria DISP3-related disorder
- p.Gly182Ser No assertion criteria DISP3-related disorder
- p.Gly184Val No assertion criteria DISP3-related disorder
- p.Gly39Arg No assertion criteria DISP3-related disorder
- p.Gly661Ala No assertion criteria DISP3-related disorder
- p.Phe425= No assertion criteria DISP3-related disorder
- p.Phe986= No assertion criteria DISP3-related disorder
- p.Pro999= No assertion criteria DISP3-related disorder
- p.Ser1355= No assertion criteria DISP3-related disorder
- p.Thr3Met No assertion criteria DISP3-related disorder ⚠
- p.Val296= No assertion criteria DISP3-related disorder
Likely benign 21
- c.3649+4C>T Multiple submitters
- p.Arg542His Multiple submitters ⚠
- p.Pro238= Single submitter
- c.1749+5G>A No assertion criteria DISP3-related disorder
- c.3230-4G>A No assertion criteria DISP3-related disorder
- p.Ala1000= No assertion criteria DISP3-related disorder
- p.Arg1022His No assertion criteria DISP3-related disorder
- p.Arg166Gln No assertion criteria DISP3-related disorder
- p.Arg294= No assertion criteria DISP3-related disorder
- p.Arg914= No assertion criteria DISP3-related disorder
- p.Asp686= No assertion criteria DISP3-related disorder
- p.Cys1167= No assertion criteria DISP3-related disorder
- p.Cys1185= No assertion criteria DISP3-related disorder
- p.Gly707= No assertion criteria DISP3-related disorder
- p.Ile1177= No assertion criteria DISP3-related disorder
- p.Ile1312= No assertion criteria DISP3-related disorder
- p.Phe566= No assertion criteria DISP3-related disorder
- p.Pro1387= No assertion criteria DISP3-related disorder
- p.Pro195= No assertion criteria DISP3-related disorder
- p.Pro662= No assertion criteria DISP3-related disorder
- p.Ser861= No assertion criteria DISP3-related disorder
Uncertain significance 14
- p.Arg1024Gln Single submitter ⚠
- p.Asp549Gly Single submitter ⚠
- p.Glu1064Lys Single submitter ⚠
- p.Glu211Asp Single submitter ⚠
- p.Gly41Arg Single submitter ⚠
- p.Leu1357Phe Single submitter ⚠
- p.Leu893Pro Single submitter ⚠
- p.Met888Val Single submitter ⚠
- p.Pro195Leu Single submitter ⚠
- p.Pro856Ser Single submitter ⚠
- p.Ser1041Gly Single submitter ⚠
- p.Tyr619fs Single submitter
- p.Val654Phe Single submitter ⚠
- p.Val860Ala Single submitter ⚠