ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=)

gnomAD frequency: 0.00001  dbSNP: rs768200772
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000927706 SCV001073295 benign not provided 2024-04-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001104966 SCV001261875 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.
GeneDx RCV000927706 SCV001801044 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826933 SCV002086677 likely benign Usher syndrome type 1F 2020-04-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004735892 SCV005358948 likely benign PCDH15-related disorder 2024-09-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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