ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.677T>C (p.Leu226Ser)

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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 RCV004665205 SCV005159530 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-22 criteria provided, single submitter clinical testing The p.L226S variant (also known as c.677T>C), located in coding exon 8 of the RAD51D gene, results from a T to C substitution at nucleotide position 677. The leucine at codon 226 is replaced by serine, an amino acid with dissimilar 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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