ECHDC3 — 35 ClinVar variants
All ClinVar germline ECHDC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
3 Likely benign · 32 Uncertain significance
Full ECHDC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ECHDC3 p.Ala36Gly Uncertain significance Single submitter
- ECHDC3 p.Arg118His Uncertain significance Single submitter
- ECHDC3 p.Asn89Asp Uncertain significance Single submitter
- ECHDC3 p.Asp87Gly Uncertain significance Single submitter
- ECHDC3 p.Glu123Lys Uncertain significance Single submitter
- ECHDC3 p.Gly154Ser Uncertain significance Single submitter
- ECHDC3 p.Gly283Arg Uncertain significance Single submitter
- ECHDC3 p.Leu181His Uncertain significance Single submitter
- ECHDC3 p.Met16Val Uncertain significance Single submitter
- ECHDC3 p.Phe172Val Uncertain significance Single submitter
- ECHDC3 p.Pro101Ser Uncertain significance Single submitter
- ECHDC3 p.Pro141Arg Uncertain significance Single submitter
- ECHDC3 p.Ser105Phe Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- ECHDC3 p.Ala173Thr Uncertain significance Single submitter
- ECHDC3 p.Arg29Cys Uncertain significance Single submitter
- ECHDC3 p.Arg29His Uncertain significance Single submitter
- ECHDC3 p.Arg51Gly Uncertain significance Single submitter
- ECHDC3 p.Arg51Trp Uncertain significance Single submitter
- ECHDC3 p.Arg8Gln Uncertain significance Single submitter
- ECHDC3 p.Asp168Asn Uncertain significance Single submitter
- ECHDC3 p.Asp34Tyr Uncertain significance Single submitter
- ECHDC3 p.Asp81Val Uncertain significance Single submitter
- ECHDC3 p.Gly117Val Uncertain significance Single submitter
- ECHDC3 p.Gly55Ala Uncertain significance Single submitter
- ECHDC3 p.His84Tyr Uncertain significance Single submitter
- ECHDC3 p.Ile56Leu Uncertain significance Single submitter
- ECHDC3 p.Pro175Ser Uncertain significance Single submitter
- ECHDC3 p.Ser88Thr Uncertain significance Single submitter
- ECHDC3 p.Ser97Ala Uncertain significance Single submitter
- ECHDC3 p.Val140Ile Uncertain significance Single submitter
- ECHDC3 p.Val142Ile Likely benign Single submitter
- ECHDC3 p.Val165Met Uncertain significance Single submitter
- ECHDC3 p.Val179Ala Uncertain significance Single submitter
All ECHDC3 variants
Likely benign 3
- p.Arg136Gln Single submitter
- p.Val142Ile Single submitter ⚠
- p.Val303Ala Single submitter
Uncertain significance 32
- p.Ala173Thr Single submitter ⚠
- p.Ala36Gly Single submitter ⚠
- p.Arg118His Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg29His Single submitter ⚠
- p.Arg51Gly Single submitter ⚠
- p.Arg51Trp Single submitter ⚠
- p.Arg8Gln Single submitter ⚠
- p.Asn89Asp Single submitter ⚠
- p.Asp168Asn Single submitter ⚠
- p.Asp34Tyr Single submitter ⚠
- p.Asp81Val Single submitter ⚠
- p.Asp87Gly Single submitter ⚠
- p.Glu123Lys Single submitter ⚠
- p.Gly117Val Single submitter ⚠
- p.Gly154Ser Single submitter ⚠
- p.Gly283Arg Single submitter ⚠
- p.Gly55Ala Single submitter ⚠
- p.His84Tyr Single submitter ⚠
- p.Ile56Leu Single submitter ⚠
- p.Leu181His Single submitter ⚠
- p.Met16Val Single submitter ⚠
- p.Phe172Val Single submitter ⚠
- p.Pro101Ser Single submitter ⚠
- p.Pro141Arg Single submitter ⚠
- p.Pro175Ser Single submitter ⚠
- p.Ser105Phe Single submitter ⚠
- p.Ser88Thr Single submitter ⚠
- p.Ser97Ala Single submitter ⚠
- p.Val140Ile Single submitter ⚠
- p.Val165Met Single submitter ⚠
- p.Val179Ala Single submitter ⚠