ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3662A>C (p.Glu1221Ala) (rs273900713)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132409 SCV000187501 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
GeneDx RCV000767143 SCV000572602 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3662A>C at the cDNA level, p.Glu1221Ala (E1221A) at the protein level, and results in the change of a Glutamic Acid to an Alanine (GAA>GCA). Also defined as BRCA1 3781A>C using alternate nomenclature, this variant has been observed in at least one individual with breast cancer, but has also been observed in healthy control subjects (Thirthagiri 2008, Kwong 2016, Lai 2017). BRCA1 Glu1221Ala was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA1 Glu1221Ala is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000485591 SCV000600339 uncertain significance not specified 2017-02-28 criteria provided, single submitter clinical testing
Color RCV000132409 SCV000688445 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-05 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112150 SCV000144829 uncertain significance Breast-ovarian cancer, familial 1 2010-09-18 no assertion criteria provided clinical testing

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