ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.128T>A (p.Leu43Ter)

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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 RCV002383286 SCV002694116 likely pathogenic Hereditary cancer-predisposing syndrome 2021-08-31 criteria provided, single submitter clinical testing The p.L43* variant (also known as c.128T>A), located in coding exon 2 of the BRIP1 gene, results from a T to A substitution at nucleotide position 128. This changes the amino acid from a leucine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a likely pathogenic variant.

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