ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2420T>G (p.Val807Gly)

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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 RCV004952528 SCV005552053 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-20 criteria provided, single submitter clinical testing The p.V807G variant (also known as c.2420T>G), located in coding exon 10 of the BRCA2 gene, results from a T to G substitution at nucleotide position 2420. The valine at codon 807 is replaced by glycine, an amino acid with dissimilar 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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