ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2837T>C (p.Leu946Pro)

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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 RCV002435190 SCV002752646 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-13 criteria provided, single submitter clinical testing The p.L946P variant (also known as c.2837T>C), located in coding exon 18 of the BRIP1 gene, results from a T to C substitution at nucleotide position 2837. The leucine at codon 946 is replaced by proline, 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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