ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6953G>T (p.Arg2318Leu)

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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 RCV004952417 SCV005548743 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-04 criteria provided, single submitter clinical testing The p.R2318L variant (also known as c.6953G>T), located in coding exon 12 of the BRCA2 gene, results from a G to T substitution at nucleotide position 6953. The arginine at codon 2318 is replaced by leucine, an amino acid with dissimilar properties. One mESC-based functional study suggests that this variant is deleterious, however, additional evidence is needed to confirm this finding (Sahu S et al. PLoS Genet. 2023 Sep;19(9):e1010940). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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