MEP1A — 112 ClinVar variants

All ClinVar germline MEP1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →

7 Likely benign · 105 Uncertain significance

Full MEP1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 99

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 80

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

Predictors split 19

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

All MEP1A variants

Likely benign 7

p.Ala537Val Single submitter
p.Ala692= Single submitter
p.Asp36Glu Single submitter
p.Asp384= Single submitter
p.Leu565Trp Single submitter
p.Ser478Asn Single submitter
p.Asp365Tyr No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 105

p.Ala151Thr Single submitter
p.Ala20Val Single submitter ⚠
p.Ala247Val Single submitter ⚠
p.Ala327Gly Single submitter ⚠
p.Ala727Thr Single submitter ⚠
p.Ala94Val Single submitter ⚠
p.Ala98Val Single submitter ⚠
p.Arg103Cys Single submitter ⚠
p.Arg103His Single submitter ⚠
p.Arg172Leu Single submitter ⚠
p.Arg372His Single submitter ⚠
p.Arg402Cys Single submitter
p.Arg439Trp Single submitter ⚠
p.Arg458Gln Single submitter ⚠
p.Arg518Trp Single submitter ⚠
p.Arg610Lys Single submitter ⚠
p.Arg650Gln Single submitter ⚠
p.Arg653Gln Single submitter ⚠
p.Arg653Leu Single submitter ⚠
p.Arg671Gly Single submitter ⚠
p.Asn190Ser Single submitter ⚠
p.Asn370Asp Single submitter ⚠
p.Asn370Ser Single submitter ⚠
p.Asn503Lys Single submitter ⚠
p.Asn66Ser Single submitter ⚠
p.Asp171Glu Single submitter ⚠
p.Asp195Asn Single submitter ⚠
p.Asp288Asn Single submitter ⚠
p.Asp293Glu Single submitter ⚠
p.Asp301Gly Single submitter
p.Asp356Glu Single submitter ⚠
p.Asp383Gly Single submitter ⚠
p.Asp385Asn Single submitter ⚠
p.Asp411Asn Single submitter ⚠
p.Asp452Asn Single submitter ⚠
p.Asp494Asn Single submitter
p.Cys269Arg Single submitter ⚠
p.Cys308Arg Single submitter ⚠
p.Cys557Tyr Single submitter ⚠
p.Gln601Arg Single submitter ⚠
p.Glu166Lys Single submitter ⚠
p.Glu29Asp Single submitter ⚠
p.Glu446Lys Single submitter ⚠
p.Glu498Lys Single submitter ⚠
p.Gly240Arg Single submitter ⚠
p.Gly312Ala Single submitter ⚠
p.Gly468Val Single submitter ⚠
p.Gly683Ser Single submitter ⚠
p.Gly706Trp Single submitter ⚠
p.Gly716Asp Single submitter ⚠
p.Gly724Arg Single submitter ⚠
p.His700Gln Single submitter ⚠
p.Ile280Asn Single submitter ⚠
p.Ile280Val Single submitter ⚠
p.Ile419Val Single submitter ⚠
p.Ile496Asn Single submitter ⚠
p.Ile496Thr Single submitter ⚠
p.Ile4Ser Single submitter ⚠
p.Ile538Thr Single submitter ⚠
p.Ile684Thr Single submitter ⚠
p.Leu497Met Single submitter ⚠
p.Leu740Ile Single submitter ⚠
p.Leu740Val Single submitter ⚠
p.Lys231Arg Single submitter ⚠
p.Met212Thr Single submitter ⚠
p.Met256Ile Single submitter ⚠
p.Met521Lys Single submitter ⚠
p.Met575Leu Single submitter ⚠
p.Phe125Leu Single submitter ⚠
p.Phe441Leu Single submitter ⚠
p.Phe702Val Single submitter ⚠
p.Pro23Leu Single submitter ⚠
p.Pro547Leu Single submitter ⚠
p.Pro640His Single submitter ⚠
p.Ser168Leu Single submitter ⚠
p.Ser246Gly Single submitter ⚠
p.Ser294Asn Single submitter ⚠
p.Ser449Ile Single submitter ⚠
p.Ser479Cys Single submitter ⚠
p.Ser568Gly Single submitter ⚠
p.Ser580Asn Single submitter ⚠
p.Ser612Asn Single submitter ⚠
p.Ser649Arg Single submitter ⚠
p.Ser64Ala Single submitter ⚠
p.Thr170Met Single submitter ⚠
p.Thr204Ile Single submitter ⚠
p.Thr227Ala Single submitter ⚠
p.Thr229Lys Single submitter
p.Thr262Ala Single submitter ⚠
p.Thr264Ser Single submitter ⚠
p.Thr437Lys Single submitter ⚠
p.Thr448Ser Single submitter ⚠
p.Thr555Ala Single submitter ⚠
p.Thr555Met Single submitter ⚠
p.Thr705Met Single submitter ⚠
p.Trp499Cys Single submitter ⚠
p.Tyr194Cys Single submitter
p.Tyr26Cys Single submitter ⚠
p.Tyr420Asn Single submitter ⚠
p.Tyr472Asn Single submitter ⚠
p.Val225Ile Single submitter ⚠
p.Val394Leu Single submitter ⚠
p.Val506Met Single submitter ⚠
p.Val655Met Single submitter ⚠
p.Val688Leu Single submitter ⚠