ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=)

gnomAD frequency: 0.00014  dbSNP: rs150303579
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151620 SCV000199830 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Pro1813Pro in Exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 3/7018 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs150303579).
Labcorp Genetics (formerly Invitae), Labcorp RCV000918866 SCV001064189 likely benign not provided 2024-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105921 SCV001262936 uncertain significance Usher syndrome type 1 2018-01-12 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.
Genome-Nilou Lab RCV001449588 SCV001652740 likely benign Usher syndrome type 1F 2021-05-18 criteria provided, single submitter clinical testing

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