ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.1535del (p.Lys512fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003576326 SCV004331230 pathogenic not provided 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys512Serfs*23) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CCDC88C-related conditions. For these reasons, this variant has been classified as Pathogenic.

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