EEF2KMT — 87 ClinVar variants

All ClinVar germline EEF2KMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

1 Benign · 8 Likely benign · 78 Uncertain significance

Full EEF2KMT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 79

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 34

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

Predictors split 45

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

All EEF2KMT variants

Benign 1

c.*1074C>T Single submitter ALG1-congenital disorder of glycosylation

Likely benign 8

p.Ala168Val Single submitter
p.Ala231Val Single submitter ⚠
p.Ala255Thr Single submitter
p.Arg264Gln Single submitter
p.Arg270Gln Single submitter
p.Arg299Gln Single submitter
p.Gly118Asp Single submitter
p.Val284Ile Single submitter

Uncertain significance 78

p.Glu319Asp Multiple submitters ALG1-congenital disorder of glycosylation ⚠
p.Ala127Val Single submitter ⚠
p.Ala146Ser Single submitter ⚠
p.Ala238Thr Single submitter ⚠
p.Ala97Val Single submitter ⚠
p.Arg110Gln Single submitter ⚠
p.Arg110Trp Single submitter ⚠
p.Arg180Cys Single submitter ⚠
p.Arg182Gln Single submitter ⚠
p.Arg18His Single submitter ⚠
p.Arg192Gln Single submitter ⚠
p.Arg198Gln Single submitter ⚠
p.Arg24Gly Single submitter ⚠
p.Arg24His Single submitter ⚠
p.Arg270Trp Single submitter ⚠
p.Arg285His Single submitter ⚠
p.Arg285Pro Single submitter ⚠
p.Arg309Cys Single submitter ⚠
p.Arg309His Single submitter ⚠
p.Arg48Gln Single submitter ⚠
p.Arg48Trp Single submitter ⚠
p.Asn204Ser Single submitter ⚠
p.Asn327Thr Single submitter ⚠
p.Asn6Lys Single submitter ⚠
p.Asp217His Single submitter ⚠
p.Cys269Tyr Single submitter ⚠
p.Gln273Lys Single submitter ⚠
p.Glu147Lys Single submitter ⚠
p.Glu151Lys Single submitter ⚠
p.Glu271Asp Single submitter ⚠
p.Glu271Gln Single submitter ⚠
p.Glu288Gln Single submitter ⚠
p.Glu296Lys Single submitter ⚠
p.Glu305Gly Single submitter ⚠
p.Glu91Lys Single submitter ⚠
p.Glu98Asp Single submitter ⚠
p.Gly132Ser Single submitter ⚠
p.Gly135Ser Single submitter ⚠
p.Gly199Arg Single submitter ⚠
p.Gly205Asp Single submitter ⚠
p.Gly205Ser Single submitter ⚠
p.Gly261Arg Single submitter ⚠
p.Gly301Arg Single submitter ⚠
p.His310Gln Single submitter ⚠
p.His52Tyr Single submitter ⚠
p.His57Tyr Single submitter ⚠
p.Ile129Phe Single submitter ⚠
p.Ile245Ser Single submitter ⚠
p.Leu122Ile Single submitter ⚠
p.Leu162Ile Single submitter ⚠
p.Leu203Phe Single submitter ⚠
p.Leu21Val Single submitter ⚠
p.Leu266Pro Single submitter ⚠
p.Leu47Val Single submitter ⚠
p.Lys37Gln Single submitter ⚠
p.Met101Ile Single submitter ⚠
p.Met178Val Single submitter ⚠
p.Met257Lys Single submitter ⚠
p.Met323Val Single submitter ⚠
p.Pro181Leu Single submitter ⚠
p.Pro308Ser Single submitter ⚠
p.Pro30His Single submitter ⚠
p.Pro30Ser Single submitter ⚠
p.Pro58Leu Single submitter ⚠
p.Pro64Gln Single submitter ⚠
p.Ser119Leu Single submitter ⚠
p.Ser191Gly Single submitter ⚠
p.Ser258Leu Single submitter ⚠
p.Ser33Asn Single submitter ⚠
p.Thr133Ser Single submitter ⚠
p.Thr160Ser Single submitter ⚠
p.Thr213Ile Single submitter ⚠
p.Thr289Met Single submitter ⚠
p.Thr54Ser Single submitter ⚠
p.Trp31Arg Single submitter ⚠
p.Val243Ile Single submitter ⚠
p.Val249Met Single submitter ⚠
p.Val55Met Single submitter ⚠