ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.683T>A (p.Met228Lys)

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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 RCV003296012 SCV003993373 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-07 criteria provided, single submitter clinical testing The p.M228K variant (also known as c.683T>A), located in coding exon 8 of the RAD51D gene, results from a T to A substitution at nucleotide position 683. The methionine at codon 228 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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