ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1580A>G (p.Gln527Arg) (rs1554098420)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571115 SCV000663665 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-24 criteria provided, single submitter clinical testing The p.Q527R variant (also known as c.1580A>G), located in coding exon 10 of the RAD50 gene, results from an A to G substitution at nucleotide position 1580. The glutamine at codon 527 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved through reptiles but not in lower 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 RCV000571115 SCV000828934 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 527 of the RAD50 protein (p.Gln527Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD50-related disease. ClinVar contains an entry for this variant (Variation ID: 480425). 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 RCV000764578 SCV000895669 uncertain significance Nijmegen breakage syndrome-like disorder 2018-10-31 criteria provided, single submitter clinical testing

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