ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2098T>A (p.Leu700Ile)

dbSNP: rs2077034962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255806 SCV002531394 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-01 criteria provided, single submitter curation
Ambry Genetics RCV002255806 SCV002730346 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-16 criteria provided, single submitter clinical testing The p.L700I variant (also known as c.2098T>A) is located in coding exon 14 of the BRIP1 gene. The leucine at codon 700 is replaced by isoleucine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 14. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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