SRMS — 96 ClinVar variants

All ClinVar germline SRMS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →

1 Benign · 12 Likely benign · 83 Uncertain significance

Full SRMS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 78

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 53

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 25

The independent predictors disagree with each other — read with care.

All SRMS variants

Benign 1

p.Pro188= Multiple submitters

Likely benign 12

p.Ala99Thr Single submitter
p.Arg185Gln Single submitter
p.Arg477Gln Single submitter
p.Arg477Trp Single submitter
p.Asn264Asp Single submitter
p.Glu343Gly Single submitter
p.Gly32Arg Single submitter
p.Met173Thr Single submitter
p.Pro97= Single submitter
p.Val346Ile Single submitter
p.Val402Ile Single submitter
p.Val414Ile Single submitter

Uncertain significance 83

p.Pro382Leu Multiple submitters ⚠
p.Ala162Pro Single submitter ⚠
p.Ala175Val Single submitter ⚠
p.Ala199Thr Single submitter ⚠
p.Ala449Gly Single submitter ⚠
p.Ala453Val Single submitter ⚠
p.Ala46Thr Single submitter ⚠
p.Ala58Val Single submitter ⚠
p.Ala90Thr Single submitter ⚠
p.Arg147Gln Single submitter ⚠
p.Arg147Trp Single submitter ⚠
p.Arg185Trp Single submitter ⚠
p.Arg225Gln Single submitter ⚠
p.Arg281Trp Single submitter ⚠
p.Arg284Pro Single submitter ⚠
p.Arg284Trp Single submitter ⚠
p.Arg287Gln Single submitter ⚠
p.Arg287Trp Single submitter ⚠
p.Arg306Cys Single submitter ⚠
p.Arg320Trp Single submitter ⚠
p.Arg323Cys Single submitter ⚠
p.Arg323His Single submitter ⚠
p.Arg349Gln Single submitter ⚠
p.Arg444Gln Single submitter ⚠
p.Arg444Trp Single submitter ⚠
p.Arg447His Single submitter ⚠
p.Arg485Ser Single submitter ⚠
p.Arg65Gln Single submitter ⚠
p.Arg74His Single submitter ⚠
p.Arg8Gln Single submitter ⚠
p.Arg8Trp Single submitter ⚠
p.Arg91His Single submitter ⚠
p.Asn399Asp Single submitter ⚠
p.Asp39Glu Single submitter ⚠
p.Asp408Asn Single submitter ⚠
p.Cys364Arg Single submitter ⚠
p.Cys425Tyr Single submitter ⚠
p.Gln118His Single submitter ⚠
p.Gln333Arg Single submitter
p.Gln438Lys Single submitter ⚠
p.Glu150Gln Single submitter ⚠
p.Glu229Lys Single submitter ⚠
p.Glu243Gly Single submitter ⚠
p.Glu303Gln Single submitter
p.Glu318Lys Single submitter ⚠
p.Gly154Arg Single submitter ⚠
p.Gly155Ala Single submitter ⚠
p.Gly24Ser Single submitter ⚠
p.Gly279Asp Single submitter ⚠
p.Gly295Arg Single submitter ⚠
p.Gly361Ser Single submitter ⚠
p.Gly423Ser Single submitter
p.Gly68Arg Single submitter ⚠
p.Gly86Ala Single submitter ⚠
p.His348Leu Single submitter ⚠
p.Ile300Val Single submitter ⚠
p.Leu153Phe Single submitter ⚠
p.Leu277Pro Single submitter ⚠
p.Leu436Pro Single submitter ⚠
p.Leu5Phe Single submitter ⚠
p.Lys307Asn Single submitter ⚠
p.Met173Val Single submitter ⚠
p.Phe11Leu Single submitter ⚠
p.Phe14Ser Single submitter ⚠
p.Pro141Ala Single submitter ⚠
p.Pro207Arg Single submitter ⚠
p.Pro389Leu Single submitter ⚠
p.Pro448Ala Single submitter ⚠
p.Pro448Leu Single submitter
p.Pro471Thr Single submitter ⚠
p.Pro48Thr Single submitter ⚠
p.Ser293Ala Single submitter ⚠
p.Ser381Phe Single submitter ⚠
p.Ser71Gly Single submitter ⚠
p.Thr114Met Single submitter ⚠
p.Thr435Met Single submitter ⚠
p.Thr43Met Single submitter ⚠
p.Thr475Met Single submitter ⚠
p.Tyr169Cys Single submitter ⚠
p.Val107Gly Single submitter
p.Val259Ile Single submitter ⚠
p.Val356Leu Single submitter ⚠
p.Val356Met Single submitter ⚠