ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.941G>C (p.Trp314Ser)

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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 RCV003176761 SCV003855301 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-14 criteria provided, single submitter clinical testing The p.W314S variant (also known as c.941G>C), located in coding exon 10 of the RAD51D gene, results from a G to C substitution at nucleotide position 941. The tryptophan at codon 314 is replaced by serine, an amino acid with highly dissimilar 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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