ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1313T>G (p.Leu438Arg)

dbSNP: rs1555607056
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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 RCV000571942 SCV000668969 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-14 criteria provided, single submitter clinical testing The p.L438R variant (also known as c.1313T>G), located in coding exon 8 of the BRIP1 gene, results from a T to G substitution at nucleotide position 1313. The leucine at codon 438 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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