ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)

dbSNP: rs1057517443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410816 SCV000487290 likely pathogenic Usher syndrome type 1F 2016-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003669146 SCV004383884 pathogenic not provided 2023-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr602*) 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. ClinVar contains an entry for this variant (Variation ID: 371655). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005044617 SCV005677102 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2024-05-28 criteria provided, single submitter clinical testing

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