CCDC148 — 87 ClinVar variants

All ClinVar germline CCDC148 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

1 Conflicting · 5 Benign · 11 Likely benign · 70 Uncertain significance

Full CCDC148 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 72

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 1

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

CCDC148 p.Gln131Arg Conflicting Single submitter

Predictors lean, ClinVar uncertain 39

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

Predictors split 32

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

All CCDC148 variants

Conflicting classifications of pathogenicity 1

p.Gln131Arg Single submitter ⚠

Benign 5

p.Gln75Pro Multiple submitters ⚠
p.Glu387= Multiple submitters
p.Glu522Lys Multiple submitters
p.Tyr307Phe Multiple submitters
p.Leu384= Single submitter

Likely benign 11

c.1489-9C>T Single submitter
p.Arg312His Single submitter
p.Arg33His Single submitter
p.Asp547= Single submitter
p.Gly560= Single submitter
p.His151Asn Single submitter
p.Ile320Val Single submitter
p.Met1Lys Single submitter
p.Met54Val Single submitter
p.Pro206Leu Single submitter
p.Thr538= Single submitter

Uncertain significance 70

p.Ala135Thr Single submitter ⚠
p.Ala42Pro Single submitter ⚠
p.Ala448Ser Single submitter ⚠
p.Ala448Thr Single submitter ⚠
p.Ala46Val Single submitter ⚠
p.Ala4Thr Single submitter ⚠
p.Ala501Val Single submitter ⚠
p.Ala514Thr Single submitter ⚠
p.Ala567Asp Single submitter ⚠
p.Arg298Ser Single submitter ⚠
p.Arg33Cys Single submitter ⚠
p.Arg375Gln Single submitter ⚠
p.Arg455Thr Single submitter ⚠
p.Arg461Lys Single submitter ⚠
p.Arg468Cys Single submitter ⚠
p.Arg468His Single submitter ⚠
p.Arg489Trp Single submitter ⚠
p.Asn102Ser Single submitter ⚠
p.Asn155Ile Single submitter ⚠
p.Asn256Tyr Single submitter ⚠
p.Asp136Tyr Single submitter ⚠
p.Asp245Val Single submitter ⚠
p.Asp263Tyr Single submitter ⚠
p.Asp436Gly Single submitter ⚠
p.Asp511Val Single submitter ⚠
p.Cys308Arg Single submitter ⚠
p.Cys344Phe Single submitter ⚠
p.Cys344Ser Single submitter ⚠
p.Gln244Arg Single submitter ⚠
p.Gln290Arg Single submitter ⚠
p.Gln310Glu Single submitter ⚠
p.Gln438Pro Single submitter ⚠
p.Glu114Lys Single submitter ⚠
p.Glu305Lys Single submitter ⚠
p.Glu400Lys Single submitter ⚠
p.Glu541Gly Single submitter ⚠
p.Ile195Asn Single submitter ⚠
p.Ile22Ser Single submitter ⚠
p.Ile315Val Single submitter ⚠
p.Ile333Val Single submitter ⚠
p.Ile418Met Single submitter ⚠
p.Leu123Phe Single submitter ⚠
p.Leu123Val Single submitter ⚠
p.Leu214Ser Single submitter ⚠
p.Leu493Arg Single submitter ⚠
p.Lys16Arg Single submitter ⚠
p.Lys203Asn Single submitter ⚠
p.Lys296Glu Single submitter ⚠
p.Lys39Glu Single submitter ⚠
p.Lys473Glu Single submitter ⚠
p.Met15Thr Single submitter ⚠
p.Met288Ile Single submitter ⚠
p.Met508Ile Single submitter ⚠
p.Met519Arg Single submitter ⚠
p.Met54Lys Single submitter ⚠
p.Phe232Leu Single submitter ⚠
p.Pro206Ser Single submitter ⚠
p.Pro220Leu Single submitter ⚠
p.Pro26Ser Single submitter ⚠
p.Ser546Ala Single submitter ⚠
p.Ser546Tyr Single submitter ⚠
p.Thr535Pro Single submitter ⚠
p.Thr564Lys Single submitter ⚠
p.Thr64Ile Single submitter ⚠
p.Trp422Arg Single submitter ⚠
p.Trp73Gly Single submitter ⚠
p.Val159Leu Single submitter ⚠
p.Val337Ala Single submitter ⚠
p.Val500Phe Single submitter ⚠
p.Val72Glu Single submitter ⚠