EPS8L3 — 100 ClinVar variants

All ClinVar germline EPS8L3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

4 Benign · 13 Likely benign · 83 Uncertain significance

Full EPS8L3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 46

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

Predictors split 40

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

All EPS8L3 variants

Benign 4

p.Asp481= Multiple submitters
p.Glu137Gln Single submitter ⚠
p.Thr547= Single submitter
p.Met35Ile No assertion criteria EPS8L3-related disorder ⚠

Likely benign 13

p.Arg138Gln Single submitter
p.Arg442= Single submitter
p.Arg467Gln Single submitter
p.Arg561His Single submitter
p.Asn273Lys Single submitter
p.Asp375Asn Single submitter
p.Asp74= Single submitter
p.Glu48Lys Single submitter ⚠
p.Glu532Lys Single submitter ⚠
p.Gly516Asp Single submitter
p.Gly556Arg Single submitter
p.Pro344Ser Single submitter
p.Thr213Ser Single submitter

Uncertain significance 83

p.Leu453Pro Multiple submitters ⚠
p.Phe318Leu Multiple submitters ⚠
p.Thr36Ile Multiple submitters hypotrichosis 5 ⚠
p.Ala181Pro Single submitter ⚠
p.Ala215Thr Single submitter ⚠
p.Ala282Val Single submitter ⚠
p.Ala8Thr Single submitter hypotrichosis 5 ⚠
p.Arg168Met Single submitter ⚠
p.Arg211Cys Single submitter ⚠
p.Arg327Thr Single submitter ⚠
p.Arg467Trp Single submitter ⚠
p.Arg485Trp Single submitter ⚠
p.Arg495Trp Single submitter ⚠
p.Arg521Gln Single submitter ⚠
p.Arg526Gln Single submitter ⚠
p.Arg530Ser Single submitter ⚠
p.Arg561Cys Single submitter ⚠
p.Arg62Gln Single submitter ⚠
p.Arg62Trp Single submitter ⚠
p.Asn296Ser Single submitter ⚠
p.Asn360Lys Single submitter ⚠
p.Asp58Val Single submitter ⚠
p.Gln161Leu Single submitter ⚠
p.Gln164Ter Single submitter
p.Gln435Arg Single submitter ⚠
p.Gln508Glu Single submitter ⚠
p.Gln558His Single submitter ⚠
p.Gln573Leu Single submitter ⚠
p.Gln71Lys Single submitter ⚠
p.Glu148Asp Single submitter ⚠
p.Glu149Lys Single submitter ⚠
p.Glu150Asp Single submitter ⚠
p.Glu199Gln Single submitter ⚠
p.Glu199Gly Single submitter ⚠
p.Glu233Gln Single submitter ⚠
p.Glu460Lys Single submitter ⚠
p.Glu505Asp Single submitter ⚠
p.Glu83Asp Single submitter ⚠
p.Gly169Glu Single submitter ⚠
p.Gly277Arg Single submitter ⚠
p.Gly278Asp Single submitter ⚠
p.Gly299Arg Single submitter ⚠
p.Gly366Ser Single submitter ⚠
p.Gly46Arg Single submitter ⚠
p.His244Tyr Single submitter ⚠
p.His315Tyr Single submitter ⚠
p.Ile562Val Single submitter ⚠
p.Leu160Val Single submitter ⚠
p.Leu176Phe Single submitter ⚠
p.Leu209Pro Single submitter ⚠
p.Leu20Pro Single submitter ⚠
p.Leu279Pro Single submitter ⚠
p.Leu317Phe Single submitter ⚠
p.Leu342Phe Single submitter ⚠
p.Leu361Ile Single submitter ⚠
p.Leu93Pro Single submitter ⚠
p.Lys290Gln Single submitter ⚠
p.Met172Thr Single submitter ⚠
p.Met178Val Single submitter ⚠
p.Met524Ile Single submitter ⚠
p.Phe221Leu Single submitter ⚠
p.Pro119Leu Single submitter ⚠
p.Pro162Arg Single submitter ⚠
p.Pro186Leu Single submitter ⚠
p.Pro190Leu Single submitter ⚠
p.Pro24Leu Single submitter ⚠
p.Pro383Thr Single submitter ⚠
p.Pro448Leu Single submitter ⚠
p.Pro466Ser Single submitter ⚠
p.Ser264Asn Single submitter ⚠
p.Ser359Gly Single submitter ⚠
p.Ser389Ala Single submitter ⚠
p.Ser445Ile Single submitter ⚠
p.Ser65Asn Single submitter ⚠
p.Thr377Ala Single submitter ⚠
p.Thr470Asn Single submitter ⚠
p.Thr545Ser Single submitter ⚠
p.Thr550Ile Single submitter ⚠
p.Trp486Arg Single submitter ⚠
p.Trp487Cys Single submitter ⚠
p.Tyr108His Single submitter ⚠
p.Tyr16His Single submitter ⚠
p.Val314Ile Single submitter ⚠