ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)

dbSNP: rs201328768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410835 SCV000485495 likely pathogenic Usher syndrome type 1F 2015-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865259 SCV002242743 pathogenic not provided 2021-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370238). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser875*) in the PCDH15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705).
Fulgent Genetics, Fulgent Genetics RCV005044607 SCV005681976 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2024-02-06 criteria provided, single submitter clinical testing

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