ENC1 — 32 ClinVar variants
All ClinVar germline ENC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Benign · 31 Uncertain significance
Full ENC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENC1 p.Ala52Val Uncertain significance Single submitter
- ENC1 p.Arg133Trp Uncertain significance Single submitter
- ENC1 p.Arg180Thr Uncertain significance Single submitter
- ENC1 p.Arg225His Uncertain significance Single submitter
- ENC1 p.Arg289Gln Uncertain significance Single submitter
- ENC1 p.Arg9His Uncertain significance Single submitter
- ENC1 p.Asn91Ser Uncertain significance Single submitter
- ENC1 p.Asp191Asn Uncertain significance Single submitter
- ENC1 p.Gln130Glu Uncertain significance Single submitter
- ENC1 p.Glu118Lys Uncertain significance Single submitter
- ENC1 p.Gly16Ser Uncertain significance Single submitter
- ENC1 p.Ile112Val Uncertain significance Single submitter
- ENC1 p.Ile244Val Uncertain significance Single submitter
- ENC1 p.Leu155Gln Uncertain significance Single submitter
- ENC1 p.Leu38Ile Uncertain significance Single submitter
- ENC1 p.Lys258Glu Uncertain significance Single submitter
- ENC1 p.Lys261Arg Uncertain significance Single submitter
- ENC1 p.Met252Val Uncertain significance Single submitter
- ENC1 p.Pro327Ala Uncertain significance Single submitter
- ENC1 p.Pro588Ser Uncertain significance Single submitter
- ENC1 p.Ser14Gly Uncertain significance Single submitter
- ENC1 p.Ser453Thr Uncertain significance Single submitter
-
ENC1 p.Phe139Leu
Uncertain significance
No assertion criteria
ENC1-related disorder
Predictors split 8
The independent predictors disagree with each other — read with care.
- ENC1 p.Arg69His Uncertain significance Single submitter
- ENC1 p.Asp184Asn Uncertain significance Single submitter
- ENC1 p.Ile179Phe Uncertain significance Single submitter
- ENC1 p.Ser11Phe Uncertain significance Single submitter
- ENC1 p.Ser441Asn Uncertain significance Single submitter
- ENC1 p.Thr583Ile Uncertain significance Single submitter
- ENC1 p.Tyr245Cys Uncertain significance Single submitter
- ENC1 p.Val564Met Uncertain significance Single submitter
All ENC1 variants
Benign 1
- c.-5A>G Multiple submitters
Uncertain significance 31
- p.Ala52Val Single submitter ⚠
- p.Arg133Trp Single submitter ⚠
- p.Arg180Thr Single submitter ⚠
- p.Arg225His Single submitter ⚠
- p.Arg289Gln Single submitter ⚠
- p.Arg69His Single submitter ⚠
- p.Arg9His Single submitter ⚠
- p.Asn91Ser Single submitter ⚠
- p.Asp184Asn Single submitter ⚠
- p.Asp191Asn Single submitter ⚠
- p.Gln130Glu Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Gly16Ser Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Ile179Phe Single submitter ⚠
- p.Ile244Val Single submitter ⚠
- p.Leu155Gln Single submitter ⚠
- p.Leu38Ile Single submitter ⚠
- p.Lys258Glu Single submitter ⚠
- p.Lys261Arg Single submitter ⚠
- p.Met252Val Single submitter ⚠
- p.Pro327Ala Single submitter ⚠
- p.Pro588Ser Single submitter ⚠
- p.Ser11Phe Single submitter ⚠
- p.Ser14Gly Single submitter ⚠
- p.Ser441Asn Single submitter ⚠
- p.Ser453Thr Single submitter ⚠
- p.Thr583Ile Single submitter ⚠
- p.Tyr245Cys Single submitter ⚠
- p.Val564Met Single submitter ⚠
- p.Phe139Leu No assertion criteria ENC1-related disorder ⚠