ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1627del (p.Glu543fs) (rs1057516892)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410989 SCV000486391 likely pathogenic Usher syndrome type 1F 2016-05-24 criteria provided, single submitter clinical testing
Invitae RCV001039425 SCV001202955 pathogenic not provided 2019-03-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu543Argfs*31) in the PCDH15 gene. It is expected to result in an absent or disrupted protein product. 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: 370952). Loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705). For these reasons, this variant has been classified as Pathogenic.

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