SSR3 — 42 ClinVar variants
All ClinVar germline SSR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
1 Likely pathogenic · 6 Benign · 13 Likely benign · 22 Uncertain significance
Full SSR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SSR3 p.Asn161Ser Uncertain significance Multiple submitters
- SSR3 p.Ile170Val Uncertain significance Multiple submitters
- SSR3 p.Arg110Lys Uncertain significance Single submitter
- SSR3 p.Gly5Ser Uncertain significance Single submitter
- SSR3 p.His52Tyr Uncertain significance Single submitter
- SSR3 p.Ile167Met Uncertain significance Single submitter
- SSR3 p.Leu104Val Uncertain significance Single submitter
- SSR3 p.Leu61Ser Uncertain significance Single submitter
- SSR3 p.Met53Val Uncertain significance Single submitter
- SSR3 p.Ser137Ala Uncertain significance Single submitter
- SSR3 p.Ser58Pro Uncertain significance Single submitter
- SSR3 p.Thr143Ser Uncertain significance Single submitter
- SSR3 p.Val148Met Uncertain significance Single submitter
- SSR3 p.Val64Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All SSR3 variants
Likely pathogenic 1
- p.Glu93fs No assertion criteria congenital disorder of glycosylation
Benign 6
- c.359+52G>A Multiple submitters
- c.360-4G>C Multiple submitters
- p.Asn126= Multiple submitters
- p.Glu93= Multiple submitters
- p.Val96= Multiple submitters
- c.134-25C>T Single submitter
Likely benign 13
- c.134-19C>G Single submitter
- c.134-6A>C Single submitter
- c.260+9G>A Single submitter
- c.360-14T>C Single submitter
- c.492-17C>T Single submitter
- p.Ala129= Single submitter
- p.Asn109= Single submitter
- p.Ile177= Single submitter
- p.Leu24= Single submitter
- p.Leu72= Single submitter
- p.Ser25= Single submitter
- p.Val147= Single submitter
- p.Val80= Single submitter
Uncertain significance 22
- p.Asn161Ser Multiple submitters ⚠
- p.Ile170Val Multiple submitters ⚠
- c.260+4_260+7del Single submitter
- c.359+9C>T Single submitter
- p.Arg110Lys Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Glu116Asp Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.His52Tyr Single submitter ⚠
- p.Ile167Met Single submitter ⚠
- p.Leu104Val Single submitter ⚠
- p.Leu61Ser Single submitter ⚠
- p.Leu84Val Single submitter ⚠
- p.Met53Val Single submitter ⚠
- p.Phe154Leu Single submitter ⚠
- p.Ser137Ala Single submitter ⚠
- p.Ser171Asn Single submitter ⚠
- p.Ser58Pro Single submitter ⚠
- p.Thr135Ala Single submitter
- p.Thr143Ser Single submitter ⚠
- p.Val148Met Single submitter ⚠
- p.Val64Met Single submitter ⚠