ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.877G>T (p.Ala293Ser)

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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 RCV002373652 SCV002685134 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-21 criteria provided, single submitter clinical testing The p.A293S variant (also known as c.877G>T), located in coding exon 9 of the RAD51D gene, results from a G to T substitution at nucleotide position 877. The alanine at codon 293 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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