Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001207973 | SCV001379341 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-21 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with leucine at codon 369 of the RAD50 protein (p.Ser369Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. 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 not present in population databases (ExAC no frequency). |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003142137 | SCV003807884 | uncertain significance | Nijmegen breakage syndrome-like disorder | 2023-02-12 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderated, BP4 supporting |