ACSM1 — 96 ClinVar variants

All ClinVar germline ACSM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

2 Benign · 11 Likely benign · 83 Uncertain significance

Full ACSM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 39

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

Predictors split 49

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

All ACSM1 variants

Benign 2

p.Lys258Arg Multiple submitters ⚠
c.192+9T>A Single submitter

Likely benign 11

p.Ala493= Single submitter
p.Arg30Gln Single submitter ⚠
p.Arg358Gln Single submitter ⚠
p.Arg424Lys Single submitter
p.Asp435Asn Single submitter ⚠
p.Ile165Thr Single submitter ⚠
p.Leu428= Single submitter
p.Ser201= Single submitter
p.Tyr341Cys Single submitter
p.Tyr544Cys Single submitter
p.Val400Ile Single submitter

Uncertain significance 83

p.Ala285Val Single submitter ⚠
p.Ala336Val Single submitter ⚠
p.Ala37Val Single submitter ⚠
p.Ala493Gly Single submitter ⚠
p.Ala495Val Single submitter ⚠
p.Ala60Pro Single submitter ⚠
p.Arg153Gln Single submitter ⚠
p.Arg193Pro Single submitter ⚠
p.Arg200Gln Single submitter ⚠
p.Arg255Gln Single submitter ⚠
p.Arg255Trp Single submitter ⚠
p.Arg358Trp Single submitter ⚠
p.Arg478His Single submitter ⚠
p.Arg570Gln Single submitter ⚠
p.Arg8Gln Single submitter ⚠
p.Arg96His Single submitter ⚠
p.Arg97His Single submitter ⚠
p.Asn312Ile Single submitter ⚠
p.Asn366Asp Single submitter ⚠
p.Asn449Ser Single submitter ⚠
p.Asp149Val Single submitter ⚠
p.Asp261Asn Single submitter ⚠
p.Asp82Ala Single submitter ⚠
p.Cys131Tyr Single submitter ⚠
p.Cys376Phe Single submitter ⚠
p.Cys431Ser Single submitter ⚠
p.Glu353Lys Single submitter ⚠
p.Glu354Val Single submitter ⚠
p.Glu371Lys Single submitter ⚠
p.Glu490Ala Single submitter ⚠
p.Glu555Gly Single submitter ⚠
p.Gly161Ser Single submitter ⚠
p.Gly228Glu Single submitter ⚠
p.Gly405Ser Single submitter ⚠
p.Gly417Asp Single submitter ⚠
p.His191Asn Single submitter ⚠
p.His313Asn Single submitter ⚠
p.His524Tyr Single submitter ⚠
p.Ile162Val Single submitter ⚠
p.Ile272Val Single submitter ⚠
p.Ile291Thr Single submitter ⚠
p.Ile375Leu Single submitter ⚠
p.Ile420Ser Single submitter ⚠
p.Ile564Thr Single submitter ⚠
p.Leu279Arg Single submitter ⚠
p.Leu279Pro Single submitter ⚠
p.Leu32Phe Single submitter ⚠
p.Leu348Ser Single submitter ⚠
p.Leu374Pro Single submitter ⚠
p.Leu428Pro Single submitter ⚠
p.Lys15Arg Single submitter ⚠
p.Lys350Asn Single submitter ⚠
p.Lys421Arg Single submitter ⚠
p.Lys549Gln Single submitter ⚠
p.Lys571Asn Single submitter ⚠
p.Met389Val Single submitter ⚠
p.Met91Thr Single submitter ⚠
p.Phe314Val Single submitter ⚠
p.Phe7Leu Single submitter ⚠
p.Pro180Ala Single submitter ⚠
p.Pro24Leu Single submitter ⚠
p.Pro349Ser Single submitter ⚠
p.Pro395Ser Single submitter ⚠
p.Pro409Ser Single submitter ⚠
p.Pro425Ser Single submitter ⚠
p.Pro46Leu Single submitter ⚠
p.Pro519Ser Single submitter ⚠
p.Ser205Thr Single submitter ⚠
p.Ser256Arg Single submitter ⚠
p.Ser256Thr Single submitter ⚠
p.Ser319Pro Single submitter ⚠
p.Ser370Leu Single submitter ⚠
p.Ser475Phe Single submitter ⚠
p.Thr518Ser Single submitter ⚠
p.Thr530Ser Single submitter ⚠
p.Thr541Arg Single submitter ⚠
p.Thr541Ile Single submitter ⚠
p.Thr574Pro Single submitter ⚠
p.Thr9Ala Single submitter ⚠
p.Trp264Cys Single submitter ⚠
p.Trp277Arg Single submitter ⚠
p.Val347Ala Single submitter ⚠
p.Val500Leu Single submitter ⚠