MCU — 23 ClinVar variants

All ClinVar germline MCU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →

1 Benign · 2 Likely benign · 20 Uncertain significance

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

⚑ Evidence disagreements 19

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 15

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

Predictors split 4

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

All MCU variants

Benign 1

p.Ter352Arg Single submitter

Likely benign 2

p.Ile127Val Single submitter
p.Ile55Leu Single submitter

Uncertain significance 20

p.Ala241Thr Single submitter ⚠
p.Arg113Gln Single submitter ⚠
p.Arg161Gln Single submitter ⚠
p.Arg226Gly Single submitter ⚠
p.Arg252Gln Single submitter ⚠
p.Arg345Gln Single submitter ⚠
p.Arg345Pro Single submitter ⚠
p.Arg96His Single submitter ⚠
p.Asp351Asn Single submitter ⚠
p.Gln346His Single submitter ⚠
p.Gly132Ser Single submitter ⚠
p.Ile347Phe Single submitter ⚠
p.Leu234Phe Single submitter ⚠
p.Leu334Gln Single submitter ⚠
p.Lys211Glu Single submitter ⚠
p.Met329Arg Single submitter ⚠
p.Pro216Thr Single submitter ⚠
p.Ser72Pro Single submitter ⚠
p.Thr100Pro Single submitter
p.Trp58Ser Single submitter ⚠