ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1717A>C (p.Lys573Gln)

dbSNP: rs1580994875
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 RCV001012829 SCV001173331 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-28 criteria provided, single submitter clinical testing The p.K573Q variant (also known as c.1717A>C), located in coding exon 11 of the RAD50 gene, results from an A to C substitution at nucleotide position 1717. The lysine at codon 573 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly 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 RCV001012829 SCV002158415 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 819896). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamine at codon 573 of the RAD50 protein (p.Lys573Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine.

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.