ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1333G>C (p.Glu445Gln) (rs80356915)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129529 SCV000184305 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
GeneDx RCV000347705 SCV000329119 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1333G>C at the cDNA level, p.Glu445Gln (E445Q) at the protein level, and results in the change of a Glutamic Acid to a Glutamine (GAA>CAA). Using alternate nomenclature, this variant would be defined as BRCA1 1452G>C. This variant has been observed in individuals with breast and/or ovarian cancer, and displayed homology directed repair activity comparable to wild-type in an in vitro functional study (Lu 2015, Azzollini 2016, Abdel-Razeq 2018). BRCA1 Glu445Gln was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in a region known to interact with multiple proteins (Paul 2014). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available information, it is unclear whether BRCA1 Glu445Gln is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000129529 SCV000682949 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-04 criteria provided, single submitter clinical testing
Mendelics RCV000709488 SCV000839288 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000347705 SCV000888843 uncertain significance not provided 2018-01-17 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111589 SCV000144059 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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