ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.676T>A (p.Leu226Met)

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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 RCV002369320 SCV002663720 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-21 criteria provided, single submitter clinical testing The p.L226M variant (also known as c.676T>A), located in coding exon 8 of the RAD51D gene, results from a T to A substitution at nucleotide position 676. The leucine at codon 226 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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