ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.530C>T (p.Pro177Leu)

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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 RCV002344641 SCV002644936 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-25 criteria provided, single submitter clinical testing The p.P177L variant (also known as c.530C>T), located in coding exon 6 of the BRCA2 gene, results from a C to T substitution at nucleotide position 530. The proline at codon 177 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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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