ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.869T>G (p.Leu290Ter) (rs730881468)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241503 SCV000299494 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000159946 SCV000210093 pathogenic not provided 2014-10-01 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.869T>G at the cDNA level and p.Leu290Ter (L290X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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