ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg) (rs373817937)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132186 SCV000187266 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-12 criteria provided, single submitter clinical testing The p.S844R variant (also known as c.2530A>C), located in coding exon 16 of the RAD50 gene, results from an A to C substitution at nucleotide position 2530. The serine at codon 844 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is 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 RCV000132186 SCV000254890 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-03 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 844 of the RAD50 protein (p.Ser844Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs373817937, ExAC 0.06%). This variant has not been reported in the literature in individuals with RAD50-related disease. ClinVar contains an entry for this variant (Variation ID: 142780). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics,Fulgent Genetics RCV000764586 SCV000895678 uncertain significance Nijmegen breakage syndrome-like disorder 2018-10-31 criteria provided, single submitter clinical testing

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.