Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002923908 | SCV003276347 | uncertain significance | Peters plus syndrome | 2022-07-29 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs781624172, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with B3GLCT-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. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 445 of the B3GLCT protein (p.Arg445Gln). |