ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.739G>T (p.Val247Leu)

dbSNP: rs1060502952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774298 SCV000908000 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774298 SCV002673960 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-10 criteria provided, single submitter clinical testing The p.V247L variant (also known as c.739G>T) is located in coding exon 9 of the RAD51D gene. The valine at codon 247 is replaced by leucine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 9. This alteration has been identified in high-risk non-BRCA1/2 family (Li J et al. J. Med. Genet., 2016 Jan;53:34-42). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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