SCD5 — 48 ClinVar variants

All ClinVar germline SCD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

1 Pathogenic · 1 Conflicting · 3 Likely benign · 43 Uncertain significance

Full SCD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 42

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SCD5 p.Trp209Ser Pathogenic No assertion criteria
hearing loss, autosomal dominant 79

Predictors agree, ClinVar conflicts 1

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

SCD5 p.Arg312Gln Conflicting Single submitter

Predictors lean, ClinVar uncertain 32

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

Predictors split 8

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

All SCD5 variants

Pathogenic 1

p.Trp209Ser No assertion criteria hearing loss, autosomal dominant 79 ⚠

Conflicting classifications of pathogenicity 1

p.Arg312Gln Single submitter ⚠

Likely benign 3

p.Ala241= Single submitter
p.Asp7= Single submitter
p.Leu261= Single submitter

Uncertain significance 43

p.Arg186Gly Multiple submitters hearing loss, autosomal dominant 79 ⚠
p.Ala16Ser Single submitter ⚠
p.Ala22Asp Single submitter ⚠
p.Ala78Val Single submitter ⚠
p.Arg103Trp Single submitter ⚠
p.Arg148His Single submitter ⚠
p.Arg162Cys Single submitter ⚠
p.Arg21Pro Single submitter ⚠
p.Arg248Gln Single submitter ⚠
p.Arg248Trp Single submitter
p.Arg42Pro Single submitter ⚠
p.Arg95Cys Single submitter ⚠
p.Arg95His Single submitter ⚠
p.Asp130Tyr Single submitter ⚠
p.Asp141Gly Single submitter
p.Glu214Asp Single submitter ⚠
p.Gly29Val Single submitter ⚠
p.Gly32Ser Single submitter ⚠
p.Gly40Arg Single submitter ⚠
p.His131Asn Single submitter ⚠
p.His94Tyr Single submitter ⚠
p.Ile124Val Single submitter ⚠
p.Ile156Val Single submitter ⚠
p.Ile230Val Single submitter ⚠
p.Leu198Phe Single submitter ⚠
p.Lys105Arg Single submitter ⚠
p.Lys252Arg Single submitter ⚠
p.Met244Ile Single submitter ⚠
p.Met244Thr Single submitter ⚠
p.Phe111Leu Single submitter ⚠
p.Phe151Cys Single submitter ⚠
p.Phe80Ile Single submitter ⚠
p.Phe82Ile Single submitter hearing loss, autosomal dominant 79 ⚠
p.Pro12Ala Single submitter ⚠
p.Pro208Leu Single submitter ⚠
p.Pro316Leu Single submitter ⚠
p.Ser27Pro Single submitter ⚠
p.Ser329Asn Single submitter ⚠
p.Thr140Met Single submitter
p.Thr294Ile Single submitter ⚠
p.Thr6Ser Single submitter ⚠
p.Tyr79Cys Single submitter ⚠
p.Val262Ile Single submitter ⚠