ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) (rs199892018)

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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 RCV000220318 SCV000270920 likely benign not specified 2015-01-29 criteria provided, single submitter clinical testing p.Val1064Leu in Exon 21 of TJP2: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, mole rat and rabbit as well as many other non-mammalian species have a leu cine (Leu) at this position despite high nearby amino acid conservation. In addi tion, this variant has been identified in 41/67664 European chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs19989 2018).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000220318 SCV000702612 likely benign not specified 2017-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000842339 SCV000984351 likely benign not provided 2018-04-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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