MMGT1 — 17 ClinVar variants

All ClinVar germline MMGT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →

3 Benign · 1 Likely benign · 13 Uncertain significance

Full MMGT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 13

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 11

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

Predictors split 2

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

All MMGT1 variants

Benign 3

c.79+62A>G Multiple submitters
c.132+154C>G Single submitter
c.236+222C>T Single submitter

Likely benign 1

p.Leu121= Single submitter

Uncertain significance 13

p.Arg102Gln Single submitter ⚠
p.Arg130Cys Single submitter ⚠
p.Arg130His Single submitter ⚠
p.Arg131Cys Single submitter ⚠
p.Arg96Cys Single submitter Hypotonia ⚠
p.Arg98Gln Single submitter ⚠
p.Asn118His Single submitter ⚠
p.Ile60Val Single submitter ⚠
p.Ser104Leu Single submitter ⚠
p.Ser117Pro Single submitter ⚠
p.Thr119Ala Single submitter ⚠
p.Tyr58Cys Single submitter ⚠
p.Val92Ile Single submitter ⚠