SSR1 — 24 ClinVar variants
All ClinVar germline SSR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Likely benign · 23 Uncertain significance
Full SSR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SSR1 p.Ala215Val Uncertain significance Single submitter
- SSR1 p.Ala277Pro Uncertain significance Single submitter
- SSR1 p.Arg199Thr Uncertain significance Single submitter
- SSR1 p.Arg234His Uncertain significance Single submitter
- SSR1 p.Asn181His Uncertain significance Single submitter
- SSR1 p.Gln151Leu Uncertain significance Single submitter
- SSR1 p.Glu55Asp Uncertain significance Single submitter
- SSR1 p.Glu58Asp Uncertain significance Single submitter
- SSR1 p.Glu58Lys Uncertain significance Single submitter
- SSR1 p.Gly111Asp Uncertain significance Single submitter
- SSR1 p.Ile264Met Uncertain significance Single submitter
- SSR1 p.Leu13Val Uncertain significance Single submitter
- SSR1 p.Leu20Phe Uncertain significance Single submitter
- SSR1 p.Met210Leu Uncertain significance Single submitter
- SSR1 p.Thr144Ser Uncertain significance Single submitter
- SSR1 p.Thr18Ala Uncertain significance Single submitter
- SSR1 p.Thr41Ile Uncertain significance Single submitter
- SSR1 p.Val145Ala Uncertain significance Single submitter
- SSR1 p.Val223Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All SSR1 variants
Likely benign 1
- p.Phe21Leu Single submitter
Uncertain significance 23
- p.Ala215Val Single submitter ⚠
- p.Ala277Pro Single submitter ⚠
- p.Arg125His Single submitter
- p.Arg199Thr Single submitter ⚠
- p.Arg234His Single submitter ⚠
- p.Asn181His Single submitter ⚠
- p.Gln151Leu Single submitter ⚠
- p.Glu198Asp Single submitter ⚠
- p.Glu55Asp Single submitter ⚠
- p.Glu58Asp Single submitter ⚠
- p.Glu58Lys Single submitter ⚠
- p.Gly111Asp Single submitter ⚠
- p.Ile264Met Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu20Phe Single submitter ⚠
- p.Met210Leu Single submitter ⚠
- p.Thr144Ser Single submitter ⚠
- p.Thr18Ala Single submitter ⚠
- p.Thr245Ile Single submitter ⚠
- p.Thr41Ile Single submitter ⚠
- p.Thr85Ala Single submitter
- p.Val145Ala Single submitter ⚠
- p.Val223Leu Single submitter ⚠