ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.953A>G (p.Lys318Arg)

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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 RCV002374262 SCV002686092 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-26 criteria provided, single submitter clinical testing The p.K318R variant (also known as c.953A>G), located in coding exon 7 of the RAD50 gene, results from an A to G substitution at nucleotide position 953. The lysine at codon 318 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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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