ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)

gnomAD frequency: 0.00044  dbSNP: rs149659876
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Total submissions: 6
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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 RCV000152026 SCV000200602 likely benign not specified 2014-09-30 criteria provided, single submitter clinical testing Met907Thr in exon 19E of TJP2: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (5/368) of African chromosomes by the 1000 Genomes Project (dbSNP rs149659876). In addition, this variant has been identified in 0.1% (6/4406) of African American chromosomes by the NHLBI Ex ome Sequencing Project (http://evs.gs.washington.edu/EVS/).
Eurofins Ntd Llc (ga) RCV000152026 SCV000344352 likely benign not specified 2016-08-27 criteria provided, single submitter clinical testing
GeneDx RCV001753540 SCV001986874 uncertain significance not provided 2022-06-07 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
Invitae RCV001753540 SCV002171785 uncertain significance not provided 2021-07-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 165417). This variant has not been reported in the literature in individuals affected with TJP2-related conditions. This variant is present in population databases (rs149659876, ExAC 0.2%). This sequence change replaces methionine with threonine at codon 907 of the TJP2 protein (p.Met907Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine.
Mayo Clinic Laboratories, Mayo Clinic RCV001753540 SCV004225035 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing BP4
PreventionGenetics, part of Exact Sciences RCV003917483 SCV004734859 uncertain significance TJP2-related condition 2023-12-08 criteria provided, single submitter clinical testing The TJP2 c.2720T>C variant is predicted to result in the amino acid substitution p.Met907Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African 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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