CCDC115 — 14 ClinVar variants
All ClinVar germline CCDC115 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Pathogenic · 1 Benign · 2 Likely benign · 10 Uncertain significance
Full CCDC115 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CCDC115 p.Arg142Gln
Uncertain significance
Single submitter
CCDC115-CDG
-
CCDC115 p.Arg7Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC115 p.Lys27Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCDC115 p.Tyr47Asn
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 4
The independent predictors disagree with each other — read with care.
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CCDC115 p.Ala149Thr
Uncertain significance
Single submitter
Inborn genetic diseases
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CCDC115 p.Arg157His
Uncertain significance
Single submitter
CCDC115-CDG
-
CCDC115 p.Arg166Trp
Uncertain significance
Single submitter
Inborn genetic diseases
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CCDC115 p.Glu93Lys
Uncertain significance
Single submitter
Inborn genetic diseases
All CCDC115 variants
Pathogenic 1
- p.Asp11Tyr No assertion criteria Congenital disorders of glycosylation type II
Benign 1
- c.215+32C>G Single submitter
Uncertain significance 10
- c.215+3G>C Single submitter
- p.Ala149Thr Single submitter Inborn genetic diseases ⚠
- p.Arg142Gln Single submitter CCDC115-CDG ⚠
- p.Arg157His Single submitter CCDC115-CDG ⚠
- p.Arg166Trp Single submitter Inborn genetic diseases ⚠
- p.Arg7Leu Single submitter Inborn genetic diseases ⚠
- p.Glu93Lys Single submitter Inborn genetic diseases ⚠
- p.Leu42fs Single submitter
- p.Lys27Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr47Asn Single submitter Inborn genetic diseases ⚠