ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.682A>G (p.Met228Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003322325 SCV004026734 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004949061 SCV005485332 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-19 criteria provided, single submitter clinical testing The p.M228V variant (also known as c.682A>G), located in coding exon 8 of the RAD51D gene, results from an A to G substitution at nucleotide position 682. The methionine at codon 228 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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