ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)

gnomAD frequency: 0.00048  dbSNP: rs199641113
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333360 SCV000342106 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing
Invitae RCV000333360 SCV001040344 likely benign not provided 2022-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000333360 SCV001785441 uncertain significance not provided 2021-09-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003957494 SCV004771313 likely benign TJP2-related condition 2023-04-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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