ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter) (rs55650082)

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Total submissions: 5
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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) RCV000111684 SCV000299647 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000111684 SCV000693512 pathogenic Breast-ovarian cancer, familial 1 2020-01-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1789 of the BRCA1 protein. It is expected to result in an absent or disrupted protein product. This variant has been described in the international bibliography in an individual with a personal and family history of breast and/or ovarian cancer indicative of a hereditary predisposition (PMID: 24549055). Truncating variants in BRCA1 are known to be pathogenic. This particular variant has been described in the mutation database ClinVar (Variation ID: 54348)
Breast Cancer Information Core (BIC) (BRCA1) RCV000111684 SCV000144185 pathogenic Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111684 SCV000297587 pathogenic Breast-ovarian cancer, familial 1 2012-11-13 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496902 SCV000587162 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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