ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3398T>A (p.Leu1133Ter) (rs80356971)

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Total submissions: 3
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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) RCV000112086 SCV000299938 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 RCV000236540 SCV000294030 pathogenic not provided 2016-03-01 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3398T>A at the cDNA level and p.Leu1133Ter (L1133X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TAA) , 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, a different nucleotide change at the same position, BRCA1 c.3398T>G, resulting in the same Leu1133Ter nonsense change has been reported in association with breast and/or ovarian cancer (Kroiss 2005). Based on the currently available information, BRCA1 Leu1133Ter is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112086 SCV000144750 pathogenic Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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