ClinVar Miner

Submissions for variant NM_001365480.1(CCDC88A):c.1517del (p.Lys506fs)

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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 RCV002877505 SCV003239523 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CCDC88A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys506Argfs*22) in the CCDC88A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC88A are known to be pathogenic (PMID: 26917597, 30392057).

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