Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 |
RCV000152026 | SCV000344352 | likely benign | not specified | 2016-08-27 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
RCV001753540 | SCV004225035 | uncertain significance | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | BP4 |
Prevention |
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. |