ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=)

gnomAD frequency: 0.00486  dbSNP: rs112097891
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Total submissions: 6
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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 RCV000039761 SCV000063450 benign not specified 2012-02-20 criteria provided, single submitter clinical testing Thr1850Thr in exon 36 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 1.6% (61/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs112097891).
GeneDx RCV000881359 SCV000528426 benign not provided 2018-12-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22135276)
Invitae RCV000881359 SCV001024527 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001104786 SCV001261673 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Clinical Genetics, Academic Medical Center RCV000039761 SCV001924876 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039761 SCV001967349 benign not specified no assertion criteria provided clinical testing

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