ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer)

dbSNP: rs1554820690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673907 SCV000799162 uncertain significance Usher syndrome type 1F 2018-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861827 SCV002315311 uncertain significance not provided 2021-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1591Lysfs*2) in the PCDH15 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 365 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 affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 557731). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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