ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)

dbSNP: rs369384363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513314 SCV003443444 pathogenic not provided 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg312*) 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 (rs369384363, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with congenital hydrocephalus (PMID: 23042809). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39861). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005007923 SCV005637719 pathogenic Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 2024-01-22 criteria provided, single submitter clinical testing
OMIM RCV000033088 SCV000056868 pathogenic Hydrocephalus, nonsyndromic, autosomal recessive 1 2018-07-10 no assertion criteria provided literature only

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