ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.737del (p.Asp245_Leu246insTer) (rs397509312)

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Total submissions: 4
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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) RCV000241020 SCV000299477 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 RCV000497268 SCV000210003 pathogenic not provided 2014-03-07 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.737delT at the cDNA level and p.Leu246Ter (L246X) at the protein level. The normal sequence, with the base that is deleted in brackets is GATT[delT]GAAC. The deletion creates a nonsense variant, changing a Leucine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.737delT, previously reported as 856delT, has been observed in an individual with ovarian cancer (Zhang 2011). We therefore consider this variant to be pathogenic.
GeneKor MSA RCV000049114 SCV000296787 pathogenic Familial cancer of breast 2018-08-01 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496359 SCV000587074 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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