ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1534C>A (p.Pro512Thr)

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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 RCV004602320 SCV005102112 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-25 criteria provided, single submitter clinical testing The p.P512T variant (also known as c.1534C>A), located in coding exon 9 of the BRCA2 gene, results from a C to A substitution at nucleotide position 1534. The proline at codon 512 is replaced by threonine, 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 alteration remains unclear.

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