EPS15L1 — 102 ClinVar variants

All ClinVar germline EPS15L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

2 Conflicting · 4 Likely benign · 96 Uncertain significance

Full EPS15L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 72

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

Predictors split 18

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

All EPS15L1 variants

Conflicting classifications of pathogenicity 2

p.Arg460Gln Single submitter ⚠
p.Lys534Arg Single submitter ⚠

Likely benign 4

c.1108-8A>G Single submitter
p.Ala203Val Single submitter
p.Asp578Asn Single submitter
p.Val842Ala Single submitter

Uncertain significance 96

p.Ala222Thr Single submitter ⚠
p.Ala36Val Single submitter ⚠
p.Ala3Thr Single submitter ⚠
p.Ala3Val Single submitter ⚠
p.Ala543Ser Single submitter ⚠
p.Ala785Pro Single submitter ⚠
p.Ala805Ser Single submitter ⚠
p.Arg237His Single submitter ⚠
p.Arg364Gly Single submitter ⚠
p.Arg408Gln Single submitter ⚠
p.Arg430Trp Single submitter
p.Arg554Cys Single submitter ⚠
p.Arg554Leu Single submitter ⚠
p.Arg670Cys Single submitter ⚠
p.Arg670His Single submitter ⚠
p.Asn603His Single submitter ⚠
p.Asn695Lys Single submitter ⚠
p.Asp182Ala Single submitter ⚠
p.Asp703Asn Single submitter ⚠
p.Asp743Asn Single submitter ⚠
p.Gln352His Single submitter ⚠
p.Gln416His Single submitter ⚠
p.Gln436His Single submitter
p.Gln455Pro Single submitter ⚠
p.Gln815His Single submitter ⚠
p.Glu281Asp Single submitter ⚠
p.Glu504Lys Single submitter ⚠
p.Glu614Lys Single submitter ⚠
p.Glu809Lys Single submitter ⚠
p.Gly15Arg Single submitter ⚠
p.Gly659Glu Single submitter ⚠
p.Gly660Arg Single submitter ⚠
p.Gly803Ser Single submitter ⚠
p.Gly818Ala Single submitter ⚠
p.Gly822Asp Single submitter ⚠
p.Ile484Met Single submitter ⚠
p.Leu138Phe Single submitter ⚠
p.Leu284Val Single submitter ⚠
p.Leu41Val Single submitter ⚠
p.Leu491Ser Single submitter ⚠
p.Leu5Arg Single submitter ⚠
p.Lys410Thr Single submitter ⚠
p.Lys458Glu Single submitter ⚠
p.Lys502Glu Single submitter ⚠
p.Lys627Arg Single submitter ⚠
p.Lys683Arg Single submitter ⚠
p.Lys790Asn Single submitter ⚠
p.Lys828Glu Single submitter ⚠
p.Met155Leu Single submitter ⚠
p.Met155Val Single submitter ⚠
p.Met358Leu Single submitter ⚠
p.Met98Val Single submitter ⚠
p.Phe333Leu Single submitter ⚠
p.Phe756Leu Single submitter ⚠
p.Phe825Cys Single submitter
p.Pro100Leu Single submitter ⚠
p.Pro114Leu Single submitter ⚠
p.Pro160Ser Single submitter ⚠
p.Pro211His Single submitter ⚠
p.Pro211Ser Single submitter ⚠
p.Pro230Leu Single submitter ⚠
p.Pro369Arg Single submitter ⚠
p.Pro369Thr Single submitter ⚠
p.Pro617Leu Single submitter ⚠
p.Pro641Leu Single submitter ⚠
p.Pro641Ser Single submitter ⚠
p.Pro668Leu Single submitter ⚠
p.Pro751Ser Single submitter ⚠
p.Pro769His Single submitter ⚠
p.Pro777Ala Single submitter
p.Pro780Arg Single submitter ⚠
p.Ser229Asn Single submitter ⚠
p.Ser246Gly Single submitter ⚠
p.Ser355Leu Single submitter ⚠
p.Ser362Leu Single submitter ⚠
p.Ser362Trp Single submitter
p.Ser371Gly Single submitter ⚠
p.Ser518Thr Single submitter ⚠
p.Ser545Asn Single submitter ⚠
p.Ser553Asn Single submitter ⚠
p.Ser715Gly Single submitter ⚠
p.Ser796Cys Single submitter ⚠
p.Ser836Gly Single submitter ⚠
p.Thr239Met Single submitter ⚠
p.Thr251Pro Single submitter ⚠
p.Thr322Ala Single submitter ⚠
p.Thr474Asn Single submitter ⚠
p.Thr482Met Single submitter ⚠
p.Thr536Ala Single submitter ⚠
p.Thr612Met Single submitter ⚠
p.Thr861Ala Single submitter ⚠
p.Val218Met Single submitter ⚠
p.Val245Ile Single submitter ⚠
p.Val273Met Single submitter ⚠
p.Val586Ile Single submitter ⚠
p.Ser137fs No assertion criteria