ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1610A>G (p.Gln537Arg)

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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 RCV002400897 SCV002705231 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter clinical testing The p.Q537R variant (also known as c.1610A>G), located in coding exon 10 of the RAD50 gene, results from an A to G substitution at nucleotide position 1610. The glutamine at codon 537 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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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