ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003721104 SCV004502123 pathogenic not provided 2023-03-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg568*) in the CCDC88C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC88C are known to be pathogenic (PMID: 23042809, 29225145). This variant is present in population databases (rs777488098, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with hydrocephalus (PMID: 29225145). For these reasons, this variant has been classified as Pathogenic.
Solve-RD Consortium RCV004765940 SCV005091503 likely pathogenic Spinocerebellar ataxia type 40 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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