ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2497C>G (p.Gln833Glu)

dbSNP: rs1338301563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697823 SCV000826454 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 833 of the RAD50 protein (p.Gln833Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RAD50-related disease. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV000697823 SCV001176620 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-21 criteria provided, single submitter clinical testing The p.Q833E variant (also known as c.2497C>G), located in coding exon 15 of the RAD50 gene, results from a C to G substitution at nucleotide position 2497. The glutamine at codon 833 is replaced by glutamic acid, an amino acid with highly 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.

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