ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.293A>G (p.Tyr98Cys)

dbSNP: rs770147648
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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 RCV000562938 SCV000667173 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-17 criteria provided, single submitter clinical testing The p.Y98C variant (also known as c.293A>G), located in coding exon 4 of the RAD51D gene, results from an A to G substitution at nucleotide position 293. The tyrosine at codon 98 is replaced by cysteine, an amino acid with highly dissimilar 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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