Submissions for variant NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)

gnomAD frequency: 0.00235  dbSNP: rs111033292

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039335	SCV000063019	benign	not specified	2012-08-29	criteria provided, single submitter	clinical testing	Tyr376Tyr in exon 11 of TMPRSS3: 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 0.6% (27/4427) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs111033292).
Eurofins Ntd Llc (ga)	RCV000727480	SCV000708921	uncertain significance	not provided	2017-05-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000727480	SCV000717969	likely benign	not provided	2021-04-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11907649, 11424922)
Invitae	RCV000727480	SCV001117951	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142460	SCV001302901	uncertain significance	Autosomal recessive nonsyndromic hearing loss 8	2017-04-27	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.
CeGaT Center for Human Genetics Tuebingen	RCV000727480	SCV004153708	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	TMPRSS3: BP4, BP7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039335	SCV001952179	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727480	SCV001973701	likely benign	not provided		no assertion criteria provided	clinical testing