ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8806T>G (p.Leu2936Val)

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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 RCV004602353 SCV005102208 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-30 criteria provided, single submitter clinical testing The p.L2936V variant (also known as c.8806T>G), located in coding exon 21 of the BRCA2 gene, results from a T to G substitution at nucleotide position 8806. The leucine at codon 2936 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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