EEF1D — 180 ClinVar variants
All ClinVar germline EEF1D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
6 Pathogenic · 6 Likely pathogenic · 1 Conflicting · 13 Benign · 19 Likely benign · 135 Uncertain significance
Full EEF1D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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EEF1D p.Arg585Cys
Uncertain significance
Multiple submitters
neurodevelopmental disorder
-
EEF1D p.Asp386Asn
Uncertain significance
Multiple submitters
EEF1D-associated Neurodevelopmental Syndrome
- EEF1D p.Thr575Met Uncertain significance Multiple submitters
- EEF1D p.Ala537Val Uncertain significance Single submitter
- EEF1D p.Ala549Thr Uncertain significance Single submitter
- EEF1D p.Ala642Thr Uncertain significance Single submitter
- EEF1D p.Arg404Cys Uncertain significance Single submitter
- EEF1D p.Arg420Gly Uncertain significance Single submitter
- EEF1D p.Arg489Gln Uncertain significance Single submitter
- EEF1D p.Arg502His Uncertain significance Single submitter
- EEF1D p.Arg585His Uncertain significance Single submitter
- EEF1D p.Asn396His Uncertain significance Single submitter
- EEF1D p.Asn479Thr Uncertain significance Single submitter
- EEF1D p.Asp573Asn Uncertain significance Single submitter
- EEF1D p.Asp573Gly Uncertain significance Single submitter
- EEF1D p.Gln394Arg Uncertain significance Single submitter
- EEF1D p.Gln424Arg Uncertain significance Single submitter
- EEF1D p.Gln468Arg Uncertain significance Single submitter
- EEF1D p.Glu516Gln Uncertain significance Single submitter
- EEF1D p.Glu533Asp Uncertain significance Single submitter
- EEF1D p.Gly595Trp Uncertain significance Single submitter
- EEF1D p.Gly605Ser Uncertain significance Single submitter
- EEF1D p.His635Asp Uncertain significance Single submitter
- EEF1D p.Ile450Leu Uncertain significance Single submitter
- EEF1D p.Leu478Val Uncertain significance Single submitter
- EEF1D p.Lys569Glu Uncertain significance Single submitter
- EEF1D p.Pro398Ser Uncertain significance Single submitter
- EEF1D p.Pro507Thr Uncertain significance Single submitter
- EEF1D p.Pro514Leu Uncertain significance Single submitter
- EEF1D p.Ser485Leu Uncertain significance Single submitter
- EEF1D p.Thr491Met Uncertain significance Single submitter
- EEF1D p.Thr630Ser Uncertain significance Single submitter
- EEF1D p.Val399Leu Uncertain significance Single submitter
- EEF1D p.Val448Ile Uncertain significance Single submitter
- EEF1D p.Val480Met Uncertain significance Single submitter
- EEF1D p.Val584Met Uncertain significance Single submitter
- EEF1D p.Val602Met Uncertain significance Single submitter
- EEF1D p.Val615Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EEF1D p.Arg414Cys Uncertain significance Single submitter
- EEF1D p.Arg461Cys Uncertain significance Single submitter
- EEF1D p.Arg461His Uncertain significance Single submitter
- EEF1D p.Arg489Trp Uncertain significance Single submitter
- EEF1D p.Gln588Pro Uncertain significance Single submitter
- EEF1D p.Pro556Ala Uncertain significance Single submitter
- EEF1D p.Ser452Ile Uncertain significance Single submitter
- EEF1D p.Ser528Thr Uncertain significance Single submitter
- EEF1D p.Val498Ile Uncertain significance Single submitter
All EEF1D variants
Pathogenic 6
- p.Lys551Ter Single submitter neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
- p.Phe118fs Single submitter neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
- p.Tyr322Ter Single submitter neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
- p.Glu24fs No assertion criteria neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
- p.Trp316Ter No assertion criteria neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
- p.Trp594Arg No assertion criteria neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
Likely pathogenic 6
- c.1215+1G>C Single submitter neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
- c.1488+1G>A Single submitter myelodysplastic syndrome associated with isolated del(5q)
- p.Arg292Ter Single submitter EEF1D-related intellectual disabilities
- p.Gln610Ter Single submitter EEF1D-related intellectual disabilities
- p.Phe371_Leu372insTer Single submitter neurodevelopmental disorder
- p.Met367Val No assertion criteria Moyamoya angiopathy
Conflicting classifications of pathogenicity 1
- p.Arg293Trp Single submitter
Benign 13
- p.Ala155= Multiple submitters
- p.Ala99= Multiple submitters
- p.Gln135Arg Multiple submitters
- p.Gly69Ser Multiple submitters
- p.Ser116Leu Multiple submitters
- p.Tyr392= Multiple submitters
- p.Asp189= Single submitter
- p.Ala578= No assertion criteria EEF1D-related disorder
- p.Arg110= No assertion criteria EEF1D-related disorder
- p.Arg336= No assertion criteria EEF1D-related disorder
- p.Arg353Gln No assertion criteria EEF1D-related disorder
- p.Lys619= No assertion criteria EEF1D-related disorder
- p.Val584= No assertion criteria EEF1D-related disorder
Likely benign 19
- c.1-83C>T Single submitter
- p.Ala183Ser Single submitter
- p.Ala60Thr Single submitter
- p.Arg288Trp Single submitter
- p.Asp207Asn Single submitter
- p.Asp518= Single submitter
- p.Glu269Lys Single submitter
- p.Gly266Ser Single submitter
- p.Gly351Ser Single submitter
- p.Gly438Ser Single submitter
- p.His210Arg Single submitter
- p.Leu291Pro Single submitter
- p.Phe118= Single submitter
- p.Ser300Pro Single submitter
- c.1288-10T>C No assertion criteria EEF1D-related disorder
- p.Ala35= No assertion criteria EEF1D-related disorder
- p.Ala549Ser No assertion criteria EEF1D-related disorder
- p.Asp252= No assertion criteria EEF1D-related disorder
- p.Thr575= No assertion criteria EEF1D-related disorder
Uncertain significance 135
- c.1905+1G>A Multiple submitters Inborn genetic diseases
- p.Arg585Cys Multiple submitters neurodevelopmental disorder ⚠
- p.Asp100Gly Multiple submitters
- p.Asp386Asn Multiple submitters EEF1D-associated Neurodevelopmental Syndrome ⚠
- p.Gly351Ala Multiple submitters
- p.Pro350Leu Multiple submitters
- p.Ser213Asn Multiple submitters
- p.Thr575Met Multiple submitters ⚠
- c.1-5G>A Single submitter
- c.1388-3C>G Single submitter
- c.1388-3dup Single submitter
- p.Ala133Val Single submitter
- p.Ala143fs Single submitter
- p.Ala227Ser Single submitter
- p.Ala325fs Single submitter
- p.Ala325Gly Single submitter
- p.Ala331Thr Single submitter
- p.Ala332Thr Single submitter
- p.Ala37Thr Single submitter
- p.Ala48Val Single submitter
- p.Ala537Val Single submitter ⚠
- p.Ala549Thr Single submitter ⚠
- p.Ala63Thr Single submitter
- p.Ala642Thr Single submitter ⚠
- p.Ala65Val Single submitter
- p.Arg126Cys Single submitter
- p.Arg126His Single submitter
- p.Arg175Trp Single submitter
- p.Arg193Thr Single submitter
- p.Arg230Gln Single submitter
- p.Arg238Trp Single submitter
- p.Arg260Cys Single submitter
- p.Arg260Gly Single submitter
- p.Arg264Gln Single submitter
- p.Arg26His Single submitter
- p.Arg272Gln Single submitter
- p.Arg272Trp Single submitter
- p.Arg273Gln Single submitter
- p.Arg273Trp Single submitter
- p.Arg275His Single submitter
- p.Arg276_Arg281del Single submitter neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
- p.Arg278Gln Single submitter
- p.Arg279Gln Single submitter
- p.Arg281His Single submitter
- p.Arg292Gln Single submitter
- p.Arg293Leu Single submitter
- p.Arg328His Single submitter
- p.Arg336Gln Single submitter
- p.Arg336Trp Single submitter
- p.Arg404Cys Single submitter ⚠
- p.Arg414Cys Single submitter ⚠
- p.Arg420Gly Single submitter ⚠
- p.Arg461Cys Single submitter ⚠
- p.Arg461His Single submitter ⚠
- p.Arg489Gln Single submitter ⚠
- p.Arg489Trp Single submitter ⚠
- p.Arg502His Single submitter ⚠
- p.Arg541Gln Single submitter
- p.Arg585His Single submitter ⚠
- p.Asn396His Single submitter ⚠
- p.Asn479Thr Single submitter ⚠
- p.Asp100Glu Single submitter
- p.Asp131Tyr Single submitter
- p.Asp16Glu Single submitter
- p.Asp189Asn Single submitter
- p.Asp323Asn Single submitter
- p.Asp573Asn Single submitter ⚠
- p.Asp573Gly Single submitter ⚠
- p.Gln201His Single submitter
- p.Gln226Ter Single submitter Inborn genetic diseases
- p.Gln394Arg Single submitter ⚠
- p.Gln424Arg Single submitter ⚠
- p.Gln468Arg Single submitter ⚠
- p.Gln588Pro Single submitter ⚠
- p.Glu122Lys Single submitter
- p.Glu313Gly Single submitter
- p.Glu31Lys Single submitter
- p.Glu45Lys Single submitter
- p.Glu516Gln Single submitter ⚠
- p.Glu533Asp Single submitter ⚠
- p.Gly146Arg Single submitter
- p.Gly146Cys Single submitter
- p.Gly162Glu Single submitter
- p.Gly190Asp Single submitter
- p.Gly253Ser Single submitter
- p.Gly280Asp Single submitter
- p.Gly397Arg Single submitter
- p.Gly4Arg Single submitter
- p.Gly595Trp Single submitter ⚠
- p.Gly605Ser Single submitter ⚠
- p.Gly95Arg Single submitter
- p.Gly97Ser Single submitter
- p.His30Asn Single submitter
- p.His329Tyr Single submitter
- p.His330Gln Single submitter
- p.His348Arg Single submitter
- p.His635Asp Single submitter ⚠
- p.Ile450Leu Single submitter ⚠
- p.Leu103Phe Single submitter
- p.Leu341Pro Single submitter
- p.Leu361Arg Single submitter
- p.Leu478Val Single submitter ⚠
- p.Lys569Glu Single submitter ⚠
- p.Phe118Ser Single submitter
- p.Phe118Val Single submitter
- p.Phe170Leu Single submitter
- p.Pro140Ser Single submitter
- p.Pro188Arg Single submitter
- p.Pro197Ala Single submitter
- p.Pro255Leu Single submitter
- p.Pro255Ser Single submitter
- p.Pro256Thr Single submitter
- p.Pro398Ser Single submitter ⚠
- p.Pro43Thr Single submitter
- p.Pro507Thr Single submitter ⚠
- p.Pro514Leu Single submitter ⚠
- p.Pro556Ala Single submitter ⚠
- p.Pro98Leu Single submitter
- p.Ser452Ile Single submitter ⚠
- p.Ser485Leu Single submitter ⚠
- p.Ser528Thr Single submitter ⚠
- p.Thr196Ser Single submitter
- p.Thr491Met Single submitter ⚠
- p.Thr630Ser Single submitter ⚠
- p.Tyr322Ser Single submitter
- p.Val111Leu Single submitter
- p.Val159Ala Single submitter
- p.Val159Met Single submitter
- p.Val399Leu Single submitter ⚠
- p.Val448Ile Single submitter ⚠
- p.Val480Met Single submitter ⚠
- p.Val498Ile Single submitter ⚠
- p.Val584Met Single submitter ⚠
- p.Val602Met Single submitter ⚠
- p.Val615Met Single submitter ⚠