ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe)

gnomAD frequency: 0.05575  dbSNP: rs41277907
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038252 SCV000061920 benign not specified 2012-11-20 criteria provided, single submitter clinical testing Ser1010Phe in exon 21A of TJP2: This variant is not expected to have clinical si gnificance because it has been identified in 7.8% (673/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS/; dbSNP rs41277907)
PreventionGenetics, part of Exact Sciences RCV000038252 SCV000310686 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000038252 SCV000717042 benign not specified 2017-08-24 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.
Invitae RCV002054694 SCV002444337 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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