ECHDC1 — 30 ClinVar variants

All ClinVar germline ECHDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →

3 Likely pathogenic · 1 Likely benign · 26 Uncertain significance

Full ECHDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 26

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 10

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

Predictors split 16

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

All ECHDC1 variants

Likely pathogenic 3

c.221-4_222delinsTA Single submitter short chain acyl-CoA dehydrogenase deficiency
c.498-40AG[2] Single submitter short chain acyl-CoA dehydrogenase deficiency
p.Met130Thr Single submitter short chain acyl-CoA dehydrogenase deficiency

Likely benign 1

p.Arg166= Single submitter

Uncertain significance 26

c.-3+979G>C Single submitter ⚠
p.Ala101Val Single submitter ⚠
p.Ala272Thr Single submitter ⚠
p.Arg192Gln Single submitter ⚠
p.Arg99His Single submitter ⚠
p.Cys262Phe Single submitter ⚠
p.Gln228His Single submitter ⚠
p.Gln274His Single submitter ⚠
p.Glu171Asp Single submitter ⚠
p.Glu237Gln Single submitter ⚠
p.Gly198Arg Single submitter ⚠
p.Gly221Arg Single submitter ⚠
p.Gly297Glu Single submitter ⚠
p.Ile183Val Single submitter ⚠
p.Leu290Ser Single submitter ⚠
p.Leu41Pro Single submitter ⚠
p.Leu6Trp Single submitter ⚠
p.Lys38Asn Single submitter ⚠
p.Met77Ile Single submitter ⚠
p.Met77Val Single submitter ⚠
p.Pro141Ser Single submitter ⚠
p.Pro45Leu Single submitter ⚠
p.Ser4Arg Single submitter ⚠
p.Thr119Ala Single submitter ⚠
p.Val177Ile Single submitter ⚠
p.Val205Ala Single submitter ⚠