ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1837A>G (p.Asn613Asp)

gnomAD frequency: 0.00001  dbSNP: rs771525293
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221046 SCV000277659 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-27 criteria provided, single submitter clinical testing The p.N613D variant (also known as c.1837A>G), located in coding exon 12 of the RAD50 gene, results from an A to G substitution at nucleotide position 1837. The asparagine at codon 613 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000221046 SCV000628173 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 613 of the RAD50 protein (p.Asn613Asp). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAD50 protein function. ClinVar contains an entry for this variant (Variation ID: 233308). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is present in population databases (rs771525293, gnomAD 0.002%).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.