ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)

gnomAD frequency: 0.00006  dbSNP: rs767811568
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309831 SCV000363140 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825808 SCV000967278 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Arg1583Arg in exon 33 of PCDH15: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/66726 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs767811568).
Labcorp Genetics (formerly Invitae), Labcorp RCV001458803 SCV001662632 likely benign not provided 2024-10-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272404 SCV001454389 likely benign Usher syndrome type 1F 2020-06-05 no assertion criteria provided clinical testing

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