ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)

dbSNP: rs1057517264
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411639 SCV000487010 likely pathogenic Usher syndrome type 1F 2016-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861395 SCV002238975 pathogenic not provided 2024-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys120Hisfs*12) 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: 371430). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005044616 SCV005677244 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2024-04-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475971 SCV004200837 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23 2023-03-15 flagged submission clinical testing

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