ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2880+19C>T (rs200384355)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152029 SCV000200606 likely benign not specified 2015-03-25 criteria provided, single submitter clinical testing p.Arg967Trp in exon 19 in TJP2: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (4/1478) of Latino chromosome s by the Exome Aggregation Consortium (ExAC,; dbS NP rs200384355). In addition, the variant occurs in a region that is poorly cons erved across species and lies in an intron in several transcript isoforms of TJP 2. Furthermore, this variant has been identified by our laboratory in 1 individu al with hearing loss who was homozygous for a pathogenic variant in another gene that explained their disease, and therefore its co-occurence with another disea se-causing variant suggests an unlikely role for this variant in that individual 's hearing loss.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726576 SCV000345644 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing

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