MTMR1 — 68 ClinVar variants
All ClinVar germline MTMR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
10 Benign · 4 Likely benign · 54 Uncertain significance
Full MTMR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MTMR1 p.Ala116Val Uncertain significance Single submitter
- MTMR1 p.Ala223Ser Uncertain significance Single submitter
- MTMR1 p.Ala288Ser Uncertain significance Single submitter
- MTMR1 p.Ala292Val Uncertain significance Single submitter
- MTMR1 p.Ala32Val Uncertain significance Single submitter
- MTMR1 p.Ala651Thr Uncertain significance Single submitter
- MTMR1 p.Ala666Thr Uncertain significance Single submitter
- MTMR1 p.Ala7Glu Uncertain significance Single submitter
- MTMR1 p.Ala93Gly Uncertain significance Single submitter
- MTMR1 p.Arg324Leu Uncertain significance Single submitter
- MTMR1 p.Arg639His Uncertain significance Single submitter
- MTMR1 p.Arg645Gln Uncertain significance Single submitter
- MTMR1 p.Arg658Gln Uncertain significance Single submitter
- MTMR1 p.Arg658Trp Uncertain significance Single submitter
- MTMR1 p.Asn233Lys Uncertain significance Single submitter
- MTMR1 p.Asp281Tyr Uncertain significance Single submitter
- MTMR1 p.Gln196Arg Uncertain significance Single submitter
- MTMR1 p.Gln41Lys Uncertain significance Single submitter
- MTMR1 p.Gly11Asp Uncertain significance Single submitter
- MTMR1 p.Gly14Ser Uncertain significance Single submitter
- MTMR1 p.Gly203Glu Uncertain significance Single submitter
- MTMR1 p.Gly218Arg Uncertain significance Single submitter
- MTMR1 p.Gly438Ala Uncertain significance Single submitter
- MTMR1 p.Ile272Thr Uncertain significance Single submitter
- MTMR1 p.Lys236Gln Uncertain significance Single submitter
- MTMR1 p.Lys439Glu Uncertain significance Single submitter
- MTMR1 p.Met128Leu Uncertain significance Single submitter
- MTMR1 p.Phe222Cys Uncertain significance Single submitter
- MTMR1 p.Pro18Ala Uncertain significance Single submitter
- MTMR1 p.Pro276Leu Uncertain significance Single submitter
- MTMR1 p.Ser672Leu Uncertain significance Single submitter
- MTMR1 p.Ser672Thr Uncertain significance Single submitter
- MTMR1 p.Ser73Thr Uncertain significance Single submitter
- MTMR1 p.Val298Leu Uncertain significance Single submitter
- MTMR1 p.Val355Ala Uncertain significance Single submitter
- MTMR1 p.Val412Met Uncertain significance Single submitter
- MTMR1 p.Val592Met Uncertain significance Single submitter
- MTMR1 p.Val606Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- MTMR1 p.Ala64Thr Uncertain significance Single submitter
- MTMR1 p.Arg164Lys Uncertain significance Single submitter
- MTMR1 p.Arg324Cys Uncertain significance Single submitter
- MTMR1 p.Arg324His Uncertain significance Single submitter
- MTMR1 p.Arg557Gln Uncertain significance Single submitter
- MTMR1 p.Arg615Trp Uncertain significance Single submitter
- MTMR1 p.Asn552Ser Uncertain significance Single submitter
- MTMR1 p.Glu148Lys Uncertain significance Single submitter
- MTMR1 p.His383Tyr Uncertain significance Single submitter
- MTMR1 p.Met461Val Uncertain significance Single submitter
- MTMR1 p.Pro304Leu Uncertain significance Single submitter
- MTMR1 p.Pro583Ala Uncertain significance Single submitter
All MTMR1 variants
Benign 10
- c.1081-305A>G Multiple submitters
- c.1081-4G>A Multiple submitters
- c.277-41C>T Multiple submitters
- c.448-137G>A Multiple submitters
- p.Gly642= Multiple submitters
- c.147-219_147-216del Single submitter
- c.1566+259A>G Single submitter
- c.352+158C>T Single submitter
- c.891+162A>G Single submitter
- c.891+284T>G Single submitter
Likely benign 4
- p.Arg650= Single submitter
- p.Pro22= Single submitter
- p.Val632Ile Single submitter
- p.Val652Ile Single submitter
Uncertain significance 54
- c.253-1G>T Single submitter
- p.Ala116Val Single submitter ⚠
- p.Ala223Ser Single submitter ⚠
- p.Ala288Ser Single submitter ⚠
- p.Ala292Val Single submitter ⚠
- p.Ala32Val Single submitter ⚠
- p.Ala64Thr Single submitter ⚠
- p.Ala651Thr Single submitter ⚠
- p.Ala666Thr Single submitter ⚠
- p.Ala7Glu Single submitter ⚠
- p.Ala93Gly Single submitter ⚠
- p.Arg164Lys Single submitter ⚠
- p.Arg324Cys Single submitter ⚠
- p.Arg324His Single submitter ⚠
- p.Arg324Leu Single submitter ⚠
- p.Arg557Gln Single submitter ⚠
- p.Arg615Trp Single submitter ⚠
- p.Arg639His Single submitter ⚠
- p.Arg645Gln Single submitter ⚠
- p.Arg658Gln Single submitter ⚠
- p.Arg658Trp Single submitter ⚠
- p.Asn233Lys Single submitter ⚠
- p.Asn552Ser Single submitter ⚠
- p.Asp281Tyr Single submitter ⚠
- p.Gln196Arg Single submitter ⚠
- p.Gln41Lys Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Gly11Asp Single submitter ⚠
- p.Gly14Ser Single submitter ⚠
- p.Gly203Glu Single submitter ⚠
- p.Gly218Arg Single submitter ⚠
- p.Gly438Ala Single submitter ⚠
- p.His383Tyr Single submitter ⚠
- p.Ile272Thr Single submitter ⚠
- p.Lys236Gln Single submitter ⚠
- p.Lys439Glu Single submitter ⚠
- p.Met128Leu Single submitter ⚠
- p.Met461Val Single submitter ⚠
- p.Phe222Cys Single submitter ⚠
- p.Pro18Ala Single submitter ⚠
- p.Pro276Leu Single submitter ⚠
- p.Pro304Leu Single submitter ⚠
- p.Pro583Ala Single submitter ⚠
- p.Ser672Leu Single submitter ⚠
- p.Ser672Thr Single submitter ⚠
- p.Ser73Thr Single submitter ⚠
- p.Trp254Ter Single submitter
- p.Trp517Ter Single submitter
- p.Val298Leu Single submitter ⚠
- p.Val355Ala Single submitter ⚠
- p.Val399Leu Single submitter
- p.Val412Met Single submitter ⚠
- p.Val592Met Single submitter ⚠
- p.Val606Ile Single submitter ⚠