ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu)

gnomAD frequency: 0.00003  dbSNP: rs727504634
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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 RCV000155895 SCV000205606 uncertain significance not specified 2013-08-10 criteria provided, single submitter clinical testing The Pro996Leu variant in TJP2 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.
GeneDx RCV001770117 SCV001992037 uncertain significance not provided 2019-04-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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