Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
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. |
Gene |
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, |
RCV000592944 | SCV004225034 | uncertain significance | not provided | 2022-02-24 | criteria provided, single submitter | clinical testing | PM2 |
Prevention |
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. |