ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.94G>C (p.Val32Leu)

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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 RCV004943630 SCV005485327 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-14 criteria provided, single submitter clinical testing The p.V32L variant (also known as c.94G>C), located in coding exon 2 of the RAD51D gene, results from a G to C substitution at nucleotide position 94. The valine at codon 32 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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