ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) (rs568470164)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673478 SCV000798682 uncertain significance Usher syndrome type 1F 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV001239240 SCV001412096 uncertain significance not provided 2019-07-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PCDH15 gene (p.Arg1909Serfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acids of the PCDH15 protein. This variant is present in population databases (rs749254918, ExAC 0.01%). This variant has not been reported in the literature in individuals with PCDH15-related conditions. 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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