ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9581C>T (p.Pro3194Leu)

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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 RCV002385238 SCV002695645 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-05 criteria provided, single submitter clinical testing The p.P3194L variant (also known as c.9581C>T), located in coding exon 25 of the BRCA2 gene, results from a C to T substitution at nucleotide position 9581. The proline at codon 3194 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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