ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser) (rs185332310)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490327 SCV000267533 uncertain significance Deafness, autosomal recessive 8 2016-03-18 criteria provided, single submitter reference population
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215952 SCV000269877 benign not specified 2016-03-03 criteria provided, single submitter clinical testing p.Phe71Ser in exon 4 of TMPRSS3: This variant is not expected to have clinical s ignificance because it has been identified in 1.0% (90/8612) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs185332310).
Illumina Clinical Services Laboratory,Illumina RCV000490327 SCV001303029 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.
Invitae RCV001511141 SCV001718333 benign not provided 2020-08-05 criteria provided, single submitter clinical testing
GeneDx RCV001511141 SCV001756959 benign not provided 2021-03-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23958653, 30245029, 25770132, 23967202)

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