ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4103A>G (p.Glu1368Gly) (rs111033449)

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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 RCV000039738 SCV000063427 likely benign not specified 2012-04-10 criteria provided, single submitter clinical testing Glu1368Gly in exon 30 of PCDH15: This variant has been identified in 0.01% (1/70 20) of European American chromosomes in a broad population by the NHLBI Exome se quencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs111033449). It is n ot expected to have clinical significance because it did not segregate with hear ing loss in one family tested by our lab and the amino acid residue is not conse rved across mammalian species.
Invitae RCV000963253 SCV001110397 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104868 SCV001261763 uncertain significance Usher syndrome type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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