ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.322A>T (p.Ser108Cys)

gnomAD frequency: 0.00001  dbSNP: rs727504668
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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, Mass General Brigham Personalized Medicine RCV000155934 SCV000205646 uncertain significance not specified 2013-08-19 criteria provided, single submitter clinical testing The Ser85Cys variant in TJP2 has not been reported in individuals with hearing l oss or in large population studies. The serine (Ser) residue at position 85 is n ot highly conserved across species, with lizard, frog and three fish species ha ving a cysteine (Cys) at this position. In summary, additional information is n eeded to determine the clinical significance of this variant; however, we lean t owards a more likely benign role.
GeneDx RCV003328560 SCV004035747 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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