DMAC2L — 30 ClinVar variants
All ClinVar germline DMAC2L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
5 Likely benign · 25 Uncertain significance
Full DMAC2L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DMAC2L c.-42+639G>A Uncertain significance Single submitter
- DMAC2L p.Ala158Val Uncertain significance Single submitter
- DMAC2L p.Arg177Gly Uncertain significance Single submitter
- DMAC2L p.Arg24Ile Uncertain significance Single submitter
- DMAC2L p.Arg24Thr Uncertain significance Single submitter
- DMAC2L p.Arg57Cys Uncertain significance Single submitter
- DMAC2L p.Asn35Lys Uncertain significance Single submitter
- DMAC2L p.Asp44Gly Uncertain significance Single submitter
- DMAC2L p.Cys117Tyr Uncertain significance Single submitter
- DMAC2L p.Cys12Tyr Uncertain significance Single submitter
- DMAC2L p.Gln10Leu Uncertain significance Single submitter
- DMAC2L p.Gln137Glu Uncertain significance Single submitter
- DMAC2L p.Glu53Lys Uncertain significance Single submitter
- DMAC2L p.Leu77Phe Uncertain significance Single submitter
- DMAC2L p.Phe34Leu Uncertain significance Single submitter
- DMAC2L p.Ser147Thr Uncertain significance Single submitter
- DMAC2L p.Ser171Asn Uncertain significance Single submitter
- DMAC2L p.Trp70Arg Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All DMAC2L variants
Likely benign 5
- p.Arg160His Single submitter
- p.Asp94Asn Single submitter
- p.Leu182Ile Single submitter ⚠
- p.Tyr167= Single submitter
- p.Val183Ile Single submitter
Uncertain significance 25
- c.-42+639G>A Single submitter ⚠
- p.Ala158Val Single submitter ⚠
- p.Arg177Gly Single submitter ⚠
- p.Arg24Ile Single submitter ⚠
- p.Arg24Thr Single submitter ⚠
- p.Arg57Cys Single submitter ⚠
- p.Arg57His Single submitter ⚠
- p.Asn35Lys Single submitter ⚠
- p.Asp103Val Single submitter ⚠
- p.Asp44Gly Single submitter ⚠
- p.Asp83Val Single submitter
- p.Cys117Tyr Single submitter ⚠
- p.Cys12Tyr Single submitter ⚠
- p.Gln10Leu Single submitter ⚠
- p.Gln137Glu Single submitter ⚠
- p.Glu53Asp Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Ile100Thr Single submitter
- p.Leu133Pro Single submitter
- p.Leu77Phe Single submitter ⚠
- p.Lys84Asn Single submitter
- p.Phe34Leu Single submitter ⚠
- p.Ser147Thr Single submitter ⚠
- p.Ser171Asn Single submitter ⚠
- p.Trp70Arg Single submitter ⚠