ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs)

dbSNP: rs1554820749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670820 SCV000795724 uncertain significance Usher syndrome type 1F 2017-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855548 SCV002236458 pathogenic not provided 2021-02-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ile1570Lysfs*23) in the PCDH15 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 386 amino acid(s) of the PCDH15 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 555074). This variant disrupts the C-terminus of the PCDH15 protein. Other variant(s) that disrupt this region (p.Q1576* ) have been determined to be pathogenic (PMID: 28281779). This suggests that variants that disrupt this region of the protein are likely to be causative of disease.

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