Submissions for variant NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)

gnomAD frequency: 0.00083  dbSNP: rs56059137

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038859	SCV000062537	likely benign	not specified	2013-11-19	criteria provided, single submitter	clinical testing	Arg376Trp in Exon 4 of DFNB31: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (7/572) of Asian chromosomes by the 1000 Genomes Project (dbSNP rs56059137), and in 0.07% (6/8600) of European American chromosomes in a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). This variant has been reported in one indiv idual with Usher syndrome Type 3; however, this individual did not have a second variant in the DFNB31 gene (Bonnet 2011). In summary, this variant is classifi ed as likely benign based on the frequency data.
Invitae	RCV000886961	SCV001030492	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000886961	SCV001143725	likely benign	not provided	2019-05-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001165949	SCV001328209	uncertain significance	Usher syndrome type 2D	2017-07-20	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001165950	SCV001328210	uncertain significance	Autosomal recessive nonsyndromic hearing loss 31	2017-07-20	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000886961	SCV001825849	likely benign	not provided	2020-11-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30245029, 21569298, 25262649, 25468891)
CeGaT Center for Human Genetics Tuebingen	RCV000886961	SCV004160626	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	WHRN: BP4, BS1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000886961	SCV001951292	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000886961	SCV001973897	uncertain significance	not provided		no assertion criteria provided	clinical testing