ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3172A>G (p.Ile1058Val) (rs1064795478)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479949 SCV000571315 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3172A>G at the cDNA level, p.Ile1058Val (I1058V) at the protein level, and results in the change of an Isoleucine to a Valine (ATT>GTT). Using alternate nomenclature, this variant would be defined as BRCA1 3291A>G. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. BRCA1 Ile1058Val was not observed in large population cohorts (Lek 2016). This variant is located in the DNA Binding domain and the RAD51 binding domain (Chen 1998, Narod 2004). 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 Ile1058Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000571167 SCV000665909 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000571167 SCV000912150 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-25 criteria provided, single submitter clinical testing

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