ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) (rs143762350)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506390 SCV000605390 uncertain significance not specified 2017-04-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000506390 SCV000710863 uncertain significance not specified 2019-01-04 criteria provided, single submitter clinical testing The p.Gly94Arg variant in TMPRSS3 has been reported in at least 2 individuals wi th hearing loss (Miyagawa 2013, LMM data). It has also been identified in 0.03% (42/129164) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org) and has been reported in ClinVar (Variation ID: 440339). Computational predicti on tools and conservation analysis suggest that the p.Gly94Arg variant may impac t the protein, though this information is not predictive enough to determine pat hogenicity. In summary, the clinical significance of the p.Gly94Arg variant is u ncertain. ACMG/AMP criteria applied: PM2_Supporting, PP3.
Illumina Clinical Services Laboratory,Illumina RCV001140697 SCV001300980 uncertain significance Deafness, autosomal recessive 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.

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.