Submissions for variant NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=)

gnomAD frequency: 0.02161  dbSNP: rs61731564

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039357	SCV000063041	benign	not specified	2010-12-21	criteria provided, single submitter	clinical testing	Gln144Gln in exon 5 of TMPRSS3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue is not located near a splice junction, is listed in dbSNP (rs61731564, 3 control submissions) and ha s been found in 10% of Black and/or Hispanic cases in our laboratory.
PreventionGenetics, part of Exact Sciences	RCV000039357	SCV000314234	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001000270	SCV000436173	likely benign	Autosomal recessive nonsyndromic hearing loss 8	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.
GeneDx	RCV000039357	SCV000718116	benign	not specified	2017-12-08	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.
Athena Diagnostics Inc	RCV000713854	SCV000844492	benign	not provided	2018-05-24	criteria provided, single submitter	clinical testing
Invitae	RCV000713854	SCV001113383	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000270	SCV001156880	benign	Autosomal recessive nonsyndromic hearing loss 8	2020-02-14	criteria provided, single submitter	clinical testing