Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001973670 | SCV002259353 | uncertain significance | not provided | 2021-07-19 | 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 (rs571333777, ExAC 0.006%). This sequence change replaces serine with asparagine at codon 1514 of the ARFGEF2 protein (p.Ser1514Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. |