Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729672 | SCV000857350 | uncertain significance | not provided | 2017-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000729672 | SCV001999770 | uncertain significance | not provided | 2022-04-19 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000729672 | SCV002162112 | uncertain significance | not provided | 2022-09-07 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 594399). This variant has not been reported in the literature in individuals affected with TJP2-related conditions. This variant is present in population databases (rs201835299, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1108 of the TJP2 protein (p.Ile1108Val). |