ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2335G>A (p.Val779Met)

gnomAD frequency: 0.00012  dbSNP: rs145368713
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592944 SCV000709521 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
Invitae RCV000592944 SCV002192695 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 779 of the TJP2 protein (p.Val779Met). This variant is present in population databases (rs145368713, gnomAD 0.04%). 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: 502683). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TJP2 protein function. 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.
GeneDx RCV000592944 SCV002568551 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing 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
Mayo Clinic Laboratories, Mayo Clinic RCV000592944 SCV004225034 uncertain significance not provided 2022-02-24 criteria provided, single submitter clinical testing PM2
PreventionGenetics, part of Exact Sciences RCV003915739 SCV004731114 uncertain significance TJP2-related condition 2024-02-07 criteria provided, single submitter clinical testing The TJP2 c.2335G>A variant is predicted to result in the amino acid substitution p.Val779Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.037% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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