Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003042245 | SCV003327401 | uncertain significance | not provided | 2022-07-04 | 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. This variant has not been reported in the literature in individuals affected with ARFGEF2-related conditions. This variant is present in population databases (rs781075417, gnomAD 0.009%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1299 of the ARFGEF2 protein (p.Lys1299Arg). |