ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)

dbSNP: rs1233449433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672908 SCV000798061 uncertain significance Usher syndrome type 1F 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001062906 SCV001227731 pathogenic not provided 2025-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1517Metfs*5) in the PCDH15 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 439 amino acid(s) of the PCDH15 protein. This variant is present in population databases (no rsID available, 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: 556848). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the PCDH15 protein in which other variant(s) (p.Q1576*) have been determined to be pathogenic (PMID: 28281779). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005046901 SCV005680213 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2024-05-25 criteria provided, single submitter clinical testing

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