MYL12A — 11 ClinVar variants
All ClinVar germline MYL12A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Benign · 10 Uncertain significance
Full MYL12A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MYL12A p.Ala36Thr Uncertain significance Single submitter
- MYL12A p.Arg132Gln Uncertain significance Single submitter
- MYL12A p.Arg16Cys Uncertain significance Single submitter
- MYL12A p.Pro79Ser Uncertain significance Single submitter
- MYL12A p.Pro98Ser Uncertain significance Single submitter
- MYL12A p.Ser2Trp Uncertain significance Single submitter
- MYL12A p.Ser3Arg Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All MYL12A variants
Benign 1
- p.Pro79= Multiple submitters
Uncertain significance 10
- p.Ala36Thr Single submitter ⚠
- p.Arg132Gln Single submitter ⚠
- p.Arg16Cys Single submitter ⚠
- p.Asp168Asn Single submitter
- p.Met24Val Single submitter
- p.Pro79Ser Single submitter ⚠
- p.Pro98Ser Single submitter ⚠
- p.Ser2Trp Single submitter ⚠
- p.Ser3Arg Single submitter ⚠
- p.Thr65Ala Single submitter ⚠