SSRP1 — 55 ClinVar variants
All ClinVar germline SSRP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
3 Benign · 1 Likely benign · 51 Uncertain significance
Full SSRP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SSRP1 p.Val167Ile Uncertain significance Multiple submitters
- SSRP1 p.Ala156Thr Uncertain significance Single submitter
- SSRP1 p.Ala526Pro Uncertain significance Single submitter
- SSRP1 p.Ala600Thr Uncertain significance Single submitter
- SSRP1 p.Arg203Trp Uncertain significance Single submitter
- SSRP1 p.Arg517Gln Uncertain significance Single submitter
- SSRP1 p.Arg94His Uncertain significance Single submitter
- SSRP1 p.Asn305Ser Uncertain significance Single submitter
- SSRP1 p.Asn498Lys Uncertain significance Single submitter
- SSRP1 p.Asn545Ser Uncertain significance Single submitter
- SSRP1 p.Asp576Asn Uncertain significance Single submitter
- SSRP1 p.Glu692Gln Uncertain significance Single submitter
- SSRP1 p.Glu79Val Uncertain significance Single submitter
- SSRP1 p.Ile374Thr Uncertain significance Single submitter
- SSRP1 p.Leu160Phe Uncertain significance Single submitter
- SSRP1 p.Leu693Val Uncertain significance Single submitter
- SSRP1 p.Lys612Glu Uncertain significance Single submitter
- SSRP1 p.Lys631Asn Uncertain significance Single submitter
- SSRP1 p.Met637Val Uncertain significance Single submitter
- SSRP1 p.Pro643Thr Uncertain significance Single submitter
- SSRP1 p.Pro697Arg Uncertain significance Single submitter
- SSRP1 p.Ser344Cys Uncertain significance Single submitter
- SSRP1 p.Ser561Thr Uncertain significance Single submitter
- SSRP1 p.Ser685Gly Uncertain significance Single submitter
- SSRP1 p.Ser80Leu Uncertain significance Single submitter
- SSRP1 p.Thr170Ser Uncertain significance Single submitter
- SSRP1 p.Thr37Ile Uncertain significance Single submitter
- SSRP1 p.Thr49Ala Uncertain significance Single submitter
- SSRP1 p.Thr642Arg Uncertain significance Single submitter
- SSRP1 p.Thr642Met Uncertain significance Single submitter
- SSRP1 p.Tyr74His Uncertain significance Single submitter
- SSRP1 p.Val175Gly Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- SSRP1 p.Ala610Val Uncertain significance Single submitter
- SSRP1 p.Arg22Gln Uncertain significance Single submitter
- SSRP1 p.Arg517Trp Uncertain significance Single submitter
- SSRP1 p.Arg529Cys Uncertain significance Single submitter
- SSRP1 p.Arg598Cys Uncertain significance Single submitter
- SSRP1 p.Arg94Cys Uncertain significance Single submitter
- SSRP1 p.Asp450Gly Uncertain significance Single submitter
- SSRP1 p.Glu99Lys Uncertain significance Single submitter
- SSRP1 p.Gly646Cys Uncertain significance Single submitter
- SSRP1 p.Lys564Met Uncertain significance Single submitter
- SSRP1 p.Lys90Glu Uncertain significance Single submitter
- SSRP1 p.Pro132Ser Uncertain significance Single submitter
- SSRP1 p.Ser187Leu Uncertain significance Single submitter
- SSRP1 p.Tyr11Cys Uncertain significance Single submitter
- SSRP1 p.Val112Leu Uncertain significance Single submitter
All SSRP1 variants
Likely benign 1
- p.Arg27His Multiple submitters
Uncertain significance 51
- p.Val167Ile Multiple submitters ⚠
- p.Ala156Thr Single submitter ⚠
- p.Ala526Pro Single submitter ⚠
- p.Ala600Thr Single submitter ⚠
- p.Ala610Val Single submitter ⚠
- p.Arg203Trp Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg517Gln Single submitter ⚠
- p.Arg517Trp Single submitter ⚠
- p.Arg529Cys Single submitter ⚠
- p.Arg598Cys Single submitter ⚠
- p.Arg94Cys Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn305Ser Single submitter ⚠
- p.Asn498Lys Single submitter ⚠
- p.Asn545Ser Single submitter ⚠
- p.Asp450Gly Single submitter ⚠
- p.Asp576Asn Single submitter ⚠
- p.Glu670Lys Single submitter
- p.Glu692Gln Single submitter ⚠
- p.Glu79Val Single submitter ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly646Cys Single submitter ⚠
- p.Ile374Thr Single submitter ⚠
- p.Ile584Ser Single submitter
- p.Leu160Phe Single submitter ⚠
- p.Leu693Val Single submitter ⚠
- p.Lys564Met Single submitter ⚠
- p.Lys612Glu Single submitter ⚠
- p.Lys631Asn Single submitter ⚠
- p.Lys90Glu Single submitter ⚠
- p.Met637Val Single submitter ⚠
- p.Pro132Ser Single submitter ⚠
- p.Pro643Thr Single submitter ⚠
- p.Pro697Arg Single submitter ⚠
- p.Ser187Leu Single submitter ⚠
- p.Ser309Phe Single submitter
- p.Ser344Cys Single submitter ⚠
- p.Ser561Thr Single submitter ⚠
- p.Ser685Gly Single submitter ⚠
- p.Ser80Leu Single submitter ⚠
- p.Thr170Ser Single submitter ⚠
- p.Thr37Ile Single submitter ⚠
- p.Thr49Ala Single submitter ⚠
- p.Thr642Arg Single submitter ⚠
- p.Thr642Met Single submitter ⚠
- p.Thr66Ile Single submitter
- p.Tyr11Cys Single submitter ⚠
- p.Tyr74His Single submitter ⚠
- p.Val112Leu Single submitter ⚠
- p.Val175Gly Single submitter ⚠