ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) (rs61731564)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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,PreventionGenetics RCV000039357 SCV000314234 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001000270 SCV000436173 likely benign Deafness, autosomal recessive 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 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000270 SCV001156880 benign Deafness, autosomal recessive 8 2020-02-14 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.