ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.293A>C (p.Tyr98Ser)

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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 RCV002440137 SCV002749949 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-09 criteria provided, single submitter clinical testing The p.Y98S variant (also known as c.293A>C), located in coding exon 4 of the RAD51D gene, results from an A to C substitution at nucleotide position 293. The tyrosine at codon 98 is replaced by serine, an amino acid with dissimilar 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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