Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196474 | SCV001367082 | uncertain significance | Glaucoma 3, primary infantile, B | 2020-01-26 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3. |
Invitae | RCV001863108 | SCV002135474 | uncertain significance | not provided | 2021-07-24 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 930655). This variant has not been reported in the literature in individuals affected with LTBP2-related conditions. This variant is present in population databases (rs141033298, ExAC 0.01%). This sequence change replaces arginine with cysteine at codon 1284 of the LTBP2 protein (p.Arg1284Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. |