ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.652G>A (p.Gly218Ser)

dbSNP: rs2142420350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258617 SCV002534841 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-22 criteria provided, single submitter curation
Ambry Genetics RCV002258617 SCV005485301 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-25 criteria provided, single submitter clinical testing The p.G218S variant (also known as c.652G>A), located in coding exon 7 of the RAD51D gene, results from a G to A substitution at nucleotide position 652. The glycine at codon 218 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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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