MBNL1 — 39 ClinVar variants
All ClinVar germline MBNL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Benign · 6 Likely benign · 31 Uncertain significance
Full MBNL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MBNL1 p.Ala125Val Uncertain significance Single submitter
- MBNL1 p.Ala130Val Uncertain significance Single submitter
- MBNL1 p.Ala132Thr Uncertain significance Single submitter
- MBNL1 p.Ala262Val Uncertain significance Single submitter
- MBNL1 p.Ala264Val Uncertain significance Single submitter
- MBNL1 p.Ala357Thr Uncertain significance Single submitter
- MBNL1 p.Ala358Thr Uncertain significance Single submitter
- MBNL1 p.Ala52Thr Uncertain significance Single submitter
- MBNL1 p.Arg195Gln Uncertain significance Single submitter
- MBNL1 p.Arg231Trp Uncertain significance Single submitter
- MBNL1 p.Arg9Gly Uncertain significance Single submitter
- MBNL1 p.Asn214Ser Uncertain significance Single submitter
- MBNL1 p.Asn289Ser Uncertain significance Single submitter
- MBNL1 p.Asp10Gly Uncertain significance Single submitter
- MBNL1 p.Gly290Ser Uncertain significance Single submitter
- MBNL1 p.His372Leu Uncertain significance Single submitter
- MBNL1 p.His376Tyr Uncertain significance Single submitter
- MBNL1 p.Leu285Phe Uncertain significance Single submitter
- MBNL1 p.Lys67Ile Uncertain significance Single submitter
- MBNL1 p.Met107Ile Uncertain significance Single submitter
- MBNL1 p.Met117Val Uncertain significance Single submitter
- MBNL1 p.Pro154Ser Uncertain significance Single submitter
- MBNL1 p.Pro161Leu Uncertain significance Single submitter
- MBNL1 p.Pro319Ser Uncertain significance Single submitter
- MBNL1 p.Thr265Asn Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All MBNL1 variants
Benign 2
- c.-1409C>T Multiple submitters
- p.Ser40= No assertion criteria MBNL1-related disorder
Likely benign 6
Uncertain significance 31
- c.808-909C>T Single submitter ⚠
- p.Ala125Val Single submitter ⚠
- p.Ala130Val Single submitter ⚠
- p.Ala132Thr Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Ala264Val Single submitter ⚠
- p.Ala357Thr Single submitter ⚠
- p.Ala358Thr Single submitter ⚠
- p.Ala52Thr Single submitter ⚠
- p.Arg195Gln Single submitter ⚠
- p.Arg231Trp Single submitter ⚠
- p.Arg49Ter Single submitter
- p.Arg9Gly Single submitter ⚠
- p.Asn192Ser Single submitter ⚠
- p.Asn214Ser Single submitter ⚠
- p.Asn289Ser Single submitter ⚠
- p.Asp10Gly Single submitter ⚠
- p.Gly290Ser Single submitter ⚠
- p.His372Leu Single submitter ⚠
- p.His376Tyr Single submitter ⚠
- p.Leu285Phe Single submitter ⚠
- p.Lys67Arg Single submitter
- p.Lys67Ile Single submitter ⚠
- p.Met107Ile Single submitter ⚠
- p.Met117Val Single submitter ⚠
- p.Phe295Val Single submitter
- p.Pro154Ser Single submitter ⚠
- p.Pro161Leu Single submitter ⚠
- p.Pro319Ser Single submitter ⚠
- p.Ser350Cys Single submitter ⚠
- p.Thr265Asn Single submitter ⚠