Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001338073 | SCV001531710 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-06 | 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 RAD50-related conditions. This variant is present in population databases (rs749214928, ExAC 0.002%). This sequence change replaces serine with asparagine at codon 844 of the RAD50 protein (p.Ser844Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. |