ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4019T>A (p.Leu1340Ter)

dbSNP: rs2053483708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284395 SCV001470170 likely pathogenic not provided 2019-12-27 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.
Ambry Genetics RCV002375326 SCV002625525 pathogenic Hereditary cancer-predisposing syndrome 2020-01-08 criteria provided, single submitter clinical testing The p.L1340* pathogenic mutation (also known as c.4019T>A), located in coding exon 9 of the BRCA1 gene, results from a T to A substitution at nucleotide position 4019. This changes the amino acid from a leucine to a stop codon within coding exon 9. 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 disease-causing mutation.

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