EMSY — 20 ClinVar variants
All ClinVar germline EMSY variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
7 Benign · 1 Benign/Likely benign · 2 Likely benign · 10 Uncertain significance
Full EMSY gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMSY p.Gln1090Lys Uncertain significance Single submitter
-
EMSY p.Gln1260Arg
Uncertain significance
Single submitter
EMSY-related disorder
- EMSY p.Pro1229Leu Uncertain significance Single submitter
- EMSY p.Thr285Ala Uncertain significance Single submitter
- EMSY p.Tyr731Cys Uncertain significance Single submitter
- EMSY p.Val1058Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All EMSY variants
Benign 7
- c.71-7C>T Multiple submitters
- p.Arg221= Multiple submitters
- p.Gln988= Multiple submitters
- p.Leu969Arg Multiple submitters ⚠
- c.170+7T>C Single submitter
- c.1559-4G>A No assertion criteria EMSY-related disorder
- p.Thr1231= No assertion criteria EMSY-related disorder
Benign/Likely benign 1
- c.1730-7T>C Multiple submitters
Likely benign 2
- p.Ala911Gly Single submitter
- p.Val754Ala No assertion criteria EMSY-related disorder ⚠
Uncertain significance 10
- c.1730-5C>G Single submitter EMSY-related disorder
- p.Gln1090Lys Single submitter ⚠
- p.Gln1260Arg Single submitter EMSY-related disorder ⚠
- p.Gln448Lys Single submitter ⚠
- p.Pro1229Leu Single submitter ⚠
- p.Ser734Asn Single submitter ⚠
- p.Thr285Ala Single submitter ⚠
- p.Thr60Ala Single submitter ⚠
- p.Tyr731Cys Single submitter ⚠
- p.Val1058Leu Single submitter ⚠