ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.686A>G (p.Gln229Arg)

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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 RCV002362180 SCV002666082 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-09 criteria provided, single submitter clinical testing The p.Q229R variant (also known as c.686A>G), located in coding exon 8 of the RAD51D gene, results from an A to G substitution at nucleotide position 686. The glutamine at codon 229 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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