ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.10A>T (p.Met4Leu)

dbSNP: rs45512093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774961 SCV000909053 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774961 SCV001178356 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-18 criteria provided, single submitter clinical testing The p.M4L variant (also known as c.10A>T), located in coding exon 1 of the BRIP1 gene, results from an A to T substitution at nucleotide position 10. The methionine at codon 4 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly 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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