ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)

dbSNP: rs1590691343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988362 SCV001138050 pathogenic Usher syndrome type 1F 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549707 SCV003201079 pathogenic not provided 2022-08-05 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: 802574). This sequence change creates a premature translational stop signal (p.Tyr621*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions.

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