MPEG1 — 155 ClinVar variants

All ClinVar germline MPEG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →

2 Pathogenic · 2 Conflicting · 3 Benign · 20 Likely benign · 128 Uncertain significance

Full MPEG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 119

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

MPEG1 p.Pro325Ser Pathogenic No assertion criteria
primary ciliary dyskinesia 3

Predictors agree, ClinVar conflicts 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MPEG1 p.Pro405Thr Conflicting Single submitter
immunodeficiency 77
MPEG1 p.Thr447Ser Conflicting Single submitter

Predictors lean, ClinVar uncertain 93

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

Predictors split 23

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

All MPEG1 variants

Pathogenic 2

p.Gln398Ter No assertion criteria immunodeficiency 77
p.Pro325Ser No assertion criteria primary ciliary dyskinesia 3 ⚠

Conflicting classifications of pathogenicity 2

p.Pro405Thr Single submitter immunodeficiency 77 ⚠
p.Thr447Ser Single submitter ⚠

Benign 3

p.Ala467= Multiple submitters
p.Ala235= Single submitter
p.Leu520= Single submitter

Likely benign 20

p.Thr73Ala Multiple submitters immunodeficiency 77
p.Ala302= Single submitter
p.Ala499= Single submitter
p.Arg222Lys Single submitter
p.Arg233His Single submitter
p.Asp177Asn Single submitter
p.Cys577= Single submitter
p.Gly500Ser Single submitter
p.Gly550Glu Single submitter
p.His204= Single submitter
p.Leu119= Single submitter
p.Leu510= Single submitter
p.Met26Thr Single submitter
p.Pro635= Single submitter
p.Ser224Phe Single submitter ⚠
p.Thr206Ile Single submitter
p.Thr364= Single submitter
p.Val394Ile Single submitter immunodeficiency 77
p.Val443Ile Single submitter
p.Thr164Ile No assertion criteria MPEG1-related disorder

Uncertain significance 128

p.Ala525Val Multiple submitters immunodeficiency 77 ⚠
p.Gln259Glu Multiple submitters MPEG1-related disorder ⚠
p.Gln713Arg Multiple submitters ⚠
p.His420Tyr Multiple submitters immunodeficiency 77 ⚠
p.Ala238Thr Single submitter ⚠
p.Ala238Val Single submitter ⚠
p.Ala240Val Single submitter ⚠
p.Ala337Thr Single submitter ⚠
p.Ala458Gly Single submitter ⚠
p.Ala591Thr Single submitter ⚠
p.Arg135Met Single submitter ⚠
p.Arg135Ser Single submitter ⚠
p.Arg149Gln Single submitter ⚠
p.Arg233Cys Single submitter ⚠
p.Arg305Cys Single submitter ⚠
p.Arg340Cys Single submitter ⚠
p.Arg55Gln Single submitter ⚠
p.Arg598Trp Single submitter ⚠
p.Arg640Thr Single submitter ⚠
p.Arg680Trp Single submitter ⚠
p.Asn126Asp Single submitter ⚠
p.Asn249Ser Single submitter immunodeficiency 77 ⚠
p.Asn269Asp Single submitter ⚠
p.Asn315= Single submitter immunodeficiency 77
p.Asn375Asp Single submitter ⚠
p.Asn404His Single submitter ⚠
p.Asn509Lys Single submitter ⚠
p.Asn538Ser Single submitter
p.Asn608Ser Single submitter ⚠
p.Asn614Ser Single submitter ⚠
p.Asn93Lys Single submitter ⚠
p.Asp177His Single submitter ⚠
p.Asp304Asn Single submitter
p.Asp366Gly Single submitter ⚠
p.Asp393Gly Single submitter ⚠
p.Asp52His Single submitter ⚠
p.Asp570Asn Single submitter ⚠
p.Asp82Asn Single submitter ⚠
p.Cys412Tyr Single submitter ⚠
p.Cys572Tyr Single submitter ⚠
p.Gln144Glu Single submitter ⚠
p.Gln217Arg Single submitter ⚠
p.Gln227Ter Single submitter immunodeficiency 77
p.Gln230His Single submitter ⚠
p.Gln32Lys Single submitter ⚠
p.Gln398Pro Single submitter ⚠
p.Gln516Leu Single submitter ⚠
p.Glu166Gln Single submitter ⚠
p.Glu335Ala Single submitter ⚠
p.Glu427Gln Single submitter ⚠
p.Glu44Gln Single submitter ⚠
p.Glu637Asp Single submitter ⚠
p.Gly127Ser Single submitter ⚠
p.Gly170Ser Single submitter ⚠
p.Gly202Asp Single submitter ⚠
p.Gly367Asp Single submitter ⚠
p.Gly379Ser Single submitter ⚠
p.Gly379Val Single submitter immunodeficiency 77 ⚠
p.Gly380Arg Single submitter ⚠
p.Gly390Glu Single submitter ⚠
p.Gly50Arg Single submitter ⚠
p.Gly530Glu Single submitter immunodeficiency 77 ⚠
p.Gly647Ala Single submitter immunodeficiency 77 ⚠
p.Gly704Arg Single submitter ⚠
p.His432Asn Single submitter ⚠
p.His432fs Single submitter immunodeficiency 77
p.Ile216Leu Single submitter ⚠
p.Ile488Met Single submitter ⚠
p.Ile622Thr Single submitter immunodeficiency 77 ⚠
p.Leu119Phe Single submitter ⚠
p.Leu121Phe Single submitter ⚠
p.Leu155Pro Single submitter ⚠
p.Leu182Gln Single submitter ⚠
p.Leu193Val Single submitter ⚠
p.Leu441Val Single submitter ⚠
p.Leu477Val Single submitter ⚠
p.Leu482del Single submitter immunodeficiency 77
p.Leu540Met Single submitter ⚠
p.Leu601Phe Single submitter ⚠
p.Leu638Arg Single submitter ⚠
p.Lys372Thr Single submitter ⚠
p.Lys511Gln Single submitter ⚠
p.Met26Ile Single submitter ⚠
p.Met491Thr Single submitter ⚠
p.Met63Thr Single submitter ⚠
p.Met642Val Single submitter ⚠
p.Phe344Leu Single submitter ⚠
p.Phe360Ile Single submitter immunodeficiency 77
p.Phe378Ser Single submitter ⚠
p.Phe479fs Single submitter
p.Phe532Leu Single submitter ⚠
p.Pro418Leu Single submitter ⚠
p.Pro552Gln Single submitter ⚠
p.Pro565Ser Single submitter ⚠
p.Pro590His Single submitter ⚠
p.Pro595Arg Single submitter ⚠
p.Pro599Gln Single submitter ⚠
p.Pro635Leu Single submitter ⚠
p.Ser110Gly Single submitter ⚠
p.Ser123Pro Single submitter ⚠
p.Ser130fs Single submitter
p.Ser208Asn Single submitter immunodeficiency 77 ⚠
p.Ser23Thr Single submitter ⚠
p.Ser265Gly Single submitter ⚠
p.Ser377Cys Single submitter ⚠
p.Ser487Asn Single submitter ⚠
p.Ser533Thr Single submitter ⚠
p.Ser625Phe Single submitter ⚠
p.Ser92Arg Single submitter ⚠
p.Thr138Asn Single submitter ⚠
p.Thr187Met Single submitter ⚠
p.Thr386Ala Single submitter ⚠
p.Thr492Ala Single submitter
p.Thr613Ile Single submitter ⚠
p.Thr613Ser Single submitter ⚠
p.Thr665Ala Single submitter ⚠
p.Trp630Arg Single submitter ⚠
p.Tyr107Cys Single submitter ⚠
p.Tyr256His Single submitter ⚠
p.Tyr416Ter Single submitter immunodeficiency 77
p.Tyr430Ter Single submitter MPEG1-related immunodeficiency
p.Val150Ile Single submitter ⚠
p.Val448Met Single submitter ⚠
p.Val574Met Single submitter ⚠
p.Val578Ile Single submitter ⚠
p.Val662Gly Single submitter ⚠
p.Arg149Ter No assertion criteria immunodeficiency 77
p.Leu221Ile No assertion criteria Castleman-Kojima disease ⚠