ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met)

gnomAD frequency: 0.00006  dbSNP: rs145766262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222091 SCV000272513 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing The p.Thr391Met variant in TMPRSS3 has not been previously reported in individua ls with hearing loss, but has been identified in 2/65994 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s145766262). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Thr39 1Met variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002500717 SCV002784995 uncertain significance Autosomal recessive nonsyndromic hearing loss 8 2021-11-18 criteria provided, single submitter clinical testing
GeneDx RCV002518210 SCV003194869 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004020637 SCV004967830 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.1172C>T (p.T391M) alteration is located in exon 11 (coding exon 10) of the TMPRSS3 gene. This alteration results from a C to T substitution at nucleotide position 1172, causing the threonine (T) at amino acid position 391 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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