ACSM3 — 94 ClinVar variants

All ClinVar germline ACSM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

9 Likely benign · 85 Uncertain significance

Full ACSM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 37

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

Predictors split 48

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

All ACSM3 variants

Likely benign 9

p.Arg11His Single submitter
p.Arg4Leu Single submitter
p.Asp31= Single submitter
p.Asp359Glu Single submitter
p.Cys15Tyr Single submitter
p.Gly485= Single submitter
p.Thr278= Single submitter
p.Val25= Single submitter
p.Val442Ile Single submitter

Uncertain significance 85

p.Pro291Leu Multiple submitters ⚠
p.Ala139Thr Single submitter ⚠
p.Ala183Thr Single submitter ⚠
p.Ala215Val Single submitter ⚠
p.Ala82Ser Single submitter ⚠
p.Arg122Trp Single submitter ⚠
p.Arg261Ser Single submitter ⚠
p.Arg331Gln Single submitter ⚠
p.Arg33Gly Single submitter ⚠
p.Arg433Gln Single submitter ⚠
p.Arg94Pro Single submitter ⚠
p.Asn444His Single submitter ⚠
p.Asp158Gly Single submitter ⚠
p.Asp424Asn Single submitter ⚠
p.Asp468Asn Single submitter ⚠
p.Cys188Ser Single submitter ⚠
p.Cys188Trp Single submitter ⚠
p.Cys385Ser Single submitter ⚠
p.Glu189Gly Single submitter ⚠
p.Glu362Asp Single submitter ⚠
p.Glu44Gln Single submitter ⚠
p.Glu92Gln Single submitter ⚠
p.Gly260Ala Single submitter ⚠
p.Gly295Glu Single submitter ⚠
p.Gly396Arg Single submitter ⚠
p.Gly454Ser Single submitter ⚠
p.Gly460Arg Single submitter ⚠
p.Gly489Val Single submitter ⚠
p.Ile124Phe Single submitter ⚠
p.Ile356Val Single submitter ⚠
p.Ile425Thr Single submitter ⚠
p.Ile481Thr Single submitter ⚠
p.Ile86Met Single submitter ⚠
p.Leu312Trp Single submitter ⚠
p.Leu370Pro Single submitter ⚠
p.Leu417Val Single submitter ⚠
p.Leu65Pro Single submitter ⚠
p.Lys209Asn Single submitter ⚠
p.Lys567Thr Single submitter ⚠
p.Lys581Thr Single submitter ⚠
p.Met230Val Single submitter ⚠
p.Met391Lys Single submitter ⚠
p.Met398Val Single submitter ⚠
p.Phe233Leu Single submitter ⚠
p.Phe252Ile Single submitter ⚠
p.Phe388Val Single submitter ⚠
p.Phe405Ser Single submitter ⚠
p.Phe523Ser Single submitter ⚠
p.Phe60Leu Single submitter ⚠
p.Pro128Arg Single submitter ⚠
p.Pro242Leu Single submitter ⚠
p.Pro268Arg Single submitter ⚠
p.Pro268Thr Single submitter ⚠
p.Pro291Ser Single submitter ⚠
p.Pro319Leu Single submitter ⚠
p.Pro358Arg Single submitter ⚠
p.Pro395Thr Single submitter ⚠
p.Pro401Leu Single submitter ⚠
p.Pro556His Single submitter ⚠
p.Pro81Leu Single submitter ⚠
p.Ser216Arg Single submitter ⚠
p.Ser276Thr Single submitter ⚠
p.Ser286Ile Single submitter ⚠
p.Ser41Cys Single submitter ⚠
p.Ser570Gly Single submitter ⚠
p.Thr278Met Single submitter ⚠
p.Thr314Ser Single submitter ⚠
p.Thr357Ile Single submitter ⚠
p.Thr36Asn Single submitter ⚠
p.Thr381Met Single submitter ⚠
p.Thr381Ser Single submitter ⚠
p.Thr448Ile Single submitter ⚠
p.Trp273Arg Single submitter ⚠
p.Trp68Gly Single submitter ⚠
p.Tyr330His Single submitter ⚠
p.Tyr341Cys Single submitter ⚠
p.Tyr441Asp Single submitter ⚠
p.Tyr457Cys Single submitter ⚠
p.Tyr530Asp Single submitter ⚠
p.Val360Met Single submitter ⚠
p.Val412Gly Single submitter ⚠
p.Val493Ala Single submitter ⚠
p.Val503Ala Single submitter ⚠
p.Val525Ile Single submitter ⚠
p.Val5Gly Single submitter ⚠