ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.643C>T (p.Leu215Phe)

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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 RCV002361773 SCV002660361 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-22 criteria provided, single submitter clinical testing The p.L215F variant (also known as c.643C>T), located in coding exon 7 of the RAD51D gene, results from a C to T substitution at nucleotide position 643. The leucine at codon 215 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well 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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