Submissions for variant NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)

gnomAD frequency: 0.00267  dbSNP: rs61735479

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039702	SCV000063391	benign	not specified	2012-03-22	criteria provided, single submitter	clinical testing	Val454Val in exon 12 of PCDH15: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in .014% (1/7020) of Europe an American chromosomes and 0.96% (36/3738) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washingto n.edu/EVS/ ; dbSNP rs61735479).
Eurofins Ntd Llc (ga)	RCV000039702	SCV000114266	benign	not specified	2013-08-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272282	SCV000363211	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	RCV000963503	SCV000724816	benign	not provided	2019-03-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000963503	SCV001110667	benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039702	SCV001918367	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000963503	SCV001969473	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831683	SCV002091736	benign	Usher syndrome type 1F	2019-10-25	no assertion criteria provided	clinical testing