ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2582A>G (p.Gln861Arg)

dbSNP: rs1554099190
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572038 SCV000671863 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-07 criteria provided, single submitter clinical testing The p.Q861R variant (also known as c.2582A>G), located in coding exon 16 of the RAD50 gene, results from an A to G substitution at nucleotide position 2582. The glutamine at codon 861 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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