Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002022713 | SCV002292251 | uncertain significance | not provided | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with isoleucine at codon 1591 of the LTBP2 protein (p.Thr1591Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs745626701, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with LTBP2-related conditions. 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 disruptive. 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. |
Fulgent Genetics, |
RCV002479740 | SCV002789132 | uncertain significance | Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 2021-11-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002022713 | SCV003933258 | uncertain significance | not provided | 2022-12-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |