ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1868T>C (p.Leu623Pro) (rs397508915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486928 SCV000564722 uncertain significance not provided 2018-07-06 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1868T>C at the cDNA level, p.Leu623Pro (L623P) at the protein level, and results in the change of a Leucine to a Proline (CTT>CCT). This variant, also defined as BRCA1 1987T>C using alternate nomenclature, was observed in a woman with a personal and family history of early-onset breast cancer (Maillet 2006). BRCA1 Leu623Pro was not observed in large population cohorts (Lek 2016). This variant is located in the DNA binding domain and a region known to interact with multiple other proteins (Narod 2004, Paul 2014). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA1 Leu623Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Mendelics RCV000709485 SCV000839278 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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