SRM — 28 ClinVar variants
All ClinVar germline SRM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Likely benign · 27 Uncertain significance
Full SRM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRM p.Ala15Val Uncertain significance Single submitter
- SRM p.Ala272Thr Uncertain significance Single submitter
- SRM p.Ala84Ser Uncertain significance Single submitter
- SRM p.Ala9Pro Uncertain significance Single submitter
- SRM p.Arg17Cys Uncertain significance Single submitter
- SRM p.Asp168Asn Uncertain significance Single submitter
- SRM p.Asp300Tyr Uncertain significance Single submitter
- SRM p.Cys123Tyr Uncertain significance Single submitter
- SRM p.Gln39Arg Uncertain significance Single submitter
- SRM p.Glu261Lys Uncertain significance Single submitter
- SRM p.Glu292Gln Uncertain significance Single submitter
- SRM p.Gly30Ser Uncertain significance Single submitter
- SRM p.Gly7Arg Uncertain significance Single submitter
- SRM p.Leu41His Uncertain significance Single submitter
- SRM p.Lys198Arg Uncertain significance Single submitter
- SRM p.Lys296Glu Uncertain significance Single submitter
- SRM p.Pro13Leu Uncertain significance Single submitter
- SRM p.Thr24Ile Uncertain significance Single submitter
- SRM p.Thr257Met Uncertain significance Single submitter
- SRM p.Val263Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- SRM p.Arg285Cys Uncertain significance Single submitter
- SRM p.Arg285His Uncertain significance Single submitter
- SRM p.Arg295His Uncertain significance Single submitter
- SRM p.Asp282Asn Uncertain significance Single submitter
- SRM p.Leu41Ile Uncertain significance Single submitter
- SRM p.Pro115Ala Uncertain significance Single submitter
All SRM variants
Likely benign 1
- p.Gln260Arg Single submitter
Uncertain significance 27
- p.Ala15Val Single submitter ⚠
- p.Ala272Thr Single submitter ⚠
- p.Ala287Thr Single submitter
- p.Ala84Ser Single submitter ⚠
- p.Ala9Pro Single submitter ⚠
- p.Arg17Cys Single submitter ⚠
- p.Arg285Cys Single submitter ⚠
- p.Arg285His Single submitter ⚠
- p.Arg295His Single submitter ⚠
- p.Asp168Asn Single submitter ⚠
- p.Asp282Asn Single submitter ⚠
- p.Asp300Tyr Single submitter ⚠
- p.Cys123Tyr Single submitter ⚠
- p.Gln39Arg Single submitter ⚠
- p.Glu261Lys Single submitter ⚠
- p.Glu292Gln Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.Gly7Arg Single submitter ⚠
- p.Leu41His Single submitter ⚠
- p.Leu41Ile Single submitter ⚠
- p.Lys198Arg Single submitter ⚠
- p.Lys296Glu Single submitter ⚠
- p.Pro115Ala Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Thr24Ile Single submitter ⚠
- p.Thr257Met Single submitter ⚠
- p.Val263Met Single submitter ⚠