Submissions for variant NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr)

gnomAD frequency: 0.03352  dbSNP: rs45598239

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039344	SCV000063028	benign	not specified	2010-10-26	criteria provided, single submitter	clinical testing	Ala90Thr in exon 4 of TMPRSS3: This variant has been identified in 4/178 (2.2%) probands with hearing loss (Rehm, unpublished data; Hutchin 2005) and was absent from 165 controls. However, in all 4 probands, a second variant was not identif ied. In addition, this variant has been identified in several control studies (r s45598239 ? 4 submissions) including 2/10 controls in our laboratory. In summary , this data suggests that the variant is benign.
Eurofins Ntd Llc (ga)	RCV000039344	SCV000230403	benign	not specified	2014-12-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039344	SCV000314232	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999777	SCV000605388	benign	Autosomal recessive nonsyndromic hearing loss 8	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000039344	SCV000730617	benign	not specified	2017-09-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000999777	SCV001300981	likely benign	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054752	SCV002407912	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000999777	SCV002802971	benign	Autosomal recessive nonsyndromic hearing loss 8	2022-05-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054752	SCV005206342	likely benign	not provided		criteria provided, single submitter	not provided