ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2129T>C (p.Val710Ala)

gnomAD frequency: 0.00017  dbSNP: rs150440380
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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, Mass General Brigham Personalized Medicine RCV000152022 SCV000200596 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val687Ala varia nt in TJP2 has not been previously reported in individuals with hearing loss, bu t has been identified in 0.07% (3/4406) of African American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs150440 380). Computational prediction tools and conservation analyses suggest that the Val687Ala variant may not impact the protein, though this information is not pre dictive enough to rule out pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon its pres ence in the general population and the computational and conservation data, we w ould lean towards a more likely benign role.
GeneDx RCV001753539 SCV001995908 uncertain significance not provided 2019-09-19 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
Invitae RCV001753539 SCV003250521 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 710 of the TJP2 protein (p.Val710Ala). This variant is present in population databases (rs150440380, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with TJP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 165412). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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