ClinVar Miner

Submissions for variant NM_001365480.1(CCDC88A):c.959_962del (p.Val320fs)

dbSNP: rs1669094977
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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 RCV001895834 SCV002155604 pathogenic not provided 2020-12-10 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 with CCDC88A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val320Glufs*29) 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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