ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=) (rs56178910)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039338 SCV000063022 likely benign not specified 2011-03-31 criteria provided, single submitter clinical testing Cys425Cys in exon 12 of TMPRSS3: This variant was reported in 1 individual with hearing loss (Wattenhofer 2002). However, this variant is not expected to have c linical significance because it does not alter an amino acid residue, is not loc ated near a splice junction, and is listed in dbSNP (rs56178910).
Illumina Clinical Services Laboratory,Illumina RCV001142457 SCV001302898 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001549648 SCV001769837 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11907649)

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