Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000561907 | SCV000667021 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-23 | criteria provided, single submitter | clinical testing | The p.H610R variant (also known as c.1829A>G), located in coding exon 12 of the RAD50 gene, results from an A to G substitution at nucleotide position 1829. The histidine at codon 610 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV000561907 | SCV000753326 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 610 of the RAD50 protein (p.His610Arg). 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. ClinVar contains an entry for this variant (Variation ID: 482102). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is present in population databases (rs527518431, gnomAD 0.003%). |
| Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153737 | SCV003843847 | benign | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing |