ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) (rs145903555)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154360 SCV000204023 likely benign not specified 2016-02-25 criteria provided, single submitter clinical testing p.Met1853Leu in exon 33 of PCDH15: This variant is not expected to have clinica l significance because it has been identified in 0.4% (61/16510) of South Asian chromosomes, including 1 homozygote, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145903555). Although this variant has been previously reported in compound heterozygosity with a pathogenic variant i n one Ashkenazi Jewish individual with Usher syndrome, it was also detected in 0 .32% (9/2836) of control chromosomes from various Ashkenazi and non-Ashkenazi Je wish populations. In addition, computational prediction tools and conservation a nalyses suggest that this variant may not impact the protein. In summary, due t o the frequency of this variant in the general population, it is likely benign.
Invitae RCV000879612 SCV001022656 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104785 SCV001261672 likely benign Usher syndrome type 1 2017-06-24 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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