Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728574 | SCV000856166 | uncertain significance | not provided | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000728574 | SCV002199481 | uncertain significance | not provided | 2023-03-08 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 593513). This variant has not been reported in the literature in individuals affected with TJP2-related conditions. This variant is present in population databases (rs759725360, gnomAD 0.05%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1168 of the TJP2 protein (p.Gln1168Arg). |
Gene |
RCV000728574 | SCV004168761 | uncertain significance | not provided | 2023-05-02 | 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 |