ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5155G>T (p.Val1719Leu) (rs749465132)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236215 SCV000293254 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5155G>T at the cDNA level, p.Val1719Leu (V1719L) at the protein level, and results in the change of a Valine to a Leucine (GTG>TTG). Using alternate nomenclature, this variant would be defined as BRCA1 5274G>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Val1719Leu was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the BRCT1 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 that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA1 Val1719Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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