MGAT1 — 84 ClinVar variants

All ClinVar germline MGAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

9 Benign · 1 Benign/Likely benign · 5 Likely benign · 69 Uncertain significance

Full MGAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 64

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 47

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

Predictors split 17

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

All MGAT1 variants

Benign 9

p.Arg223Gln Single submitter
p.Arg31= Single submitter
p.Asp44Asn Single submitter
p.Leu381= Single submitter
p.Leu435Pro Single submitter
p.Ser39= Single submitter
p.Thr148= Single submitter
p.Thr421= Single submitter
p.Val384= Single submitter

Benign/Likely benign 1

p.Thr30= Multiple submitters

Likely benign 5

p.Arg351Gln Single submitter
p.Arg385= Single submitter
p.Gly415= Single submitter
p.Gly76Arg Single submitter
p.Pro433= Single submitter

Uncertain significance 69

p.Ala158Thr Single submitter ⚠
p.Ala186Ser Single submitter ⚠
p.Ala204Val Single submitter ⚠
p.Ala205Thr Single submitter ⚠
p.Ala414Gly Single submitter ⚠
p.Ala48Gly Single submitter ⚠
p.Ala7Ser Single submitter ⚠
p.Arg177Cys Single submitter
p.Arg198Trp Single submitter ⚠
p.Arg201His Single submitter ⚠
p.Arg223Trp Single submitter ⚠
p.Arg294Gln Single submitter ⚠
p.Arg351Gly Single submitter ⚠
p.Arg361Cys Single submitter ⚠
p.Arg378Gln Single submitter ⚠
p.Arg378Pro Single submitter ⚠
p.Arg378Trp Single submitter ⚠
p.Arg385Gln Single submitter ⚠
p.Arg391Lys Single submitter ⚠
p.Arg413Thr Single submitter ⚠
p.Arg417Gln Single submitter ⚠
p.Arg425Trp Single submitter ⚠
p.Arg427Cys Single submitter ⚠
p.Arg427His Single submitter ⚠
p.Arg67Trp Single submitter ⚠
p.Arg83Gln Single submitter ⚠
p.Asn244His Single submitter ⚠
p.Asn376Asp Single submitter ⚠
p.Asp166Asn Single submitter ⚠
p.Asp46Glu Single submitter ⚠
p.Asp46His Single submitter ⚠
p.Asp60Asn Single submitter ⚠
p.Cys121Ser Single submitter
p.Gln337Arg Single submitter ⚠
p.Gln369Arg Single submitter ⚠
p.Gln423Arg Single submitter ⚠
p.Gln5Glu Single submitter ⚠
p.Glu274Lys Single submitter ⚠
p.Gly156Ala Single submitter ⚠
p.Gly156Asp Single submitter ⚠
p.Gly418Cys Single submitter ⚠
p.Gly418Val Single submitter ⚠
p.His321Gln Single submitter ⚠
p.Ile185Phe Single submitter ⚠
p.Ile419Val Single submitter ⚠
p.Leu271Pro Single submitter ⚠
p.Leu359Phe Single submitter ⚠
p.Leu50Phe Single submitter ⚠
p.Lys282Glu Single submitter ⚠
p.Lys285Gln Single submitter ⚠
p.Lys330Arg Single submitter ⚠
p.Lys379Glu Single submitter ⚠
p.Phe28Leu Single submitter ⚠
p.Phe397Val Single submitter
p.Pro233Ser Single submitter ⚠
p.Pro281Arg Single submitter ⚠
p.Ser239Leu Single submitter ⚠
p.Ser409Leu Single submitter ⚠
p.Ser41Asn Single submitter ⚠
p.Thr100Ile Single submitter ⚠
p.Thr389Met Single submitter ⚠
p.Thr436Met Single submitter ⚠
p.Tyr189Cys Single submitter ⚠
p.Val10Ala Single submitter ⚠
p.Val196Ala Single submitter
p.Val319Ala Single submitter ⚠
p.Val362Ile Single submitter ⚠
p.Val370Gly Single submitter
p.Val97Met Single submitter ⚠