ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2554C>G (p.Leu852Val) (rs863224754)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198115 SCV000254962 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-06-13 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 852 of the BRCA1 protein (p.Leu852Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000487931 SCV000575703 uncertain significance Breast-ovarian cancer, familial 1 2015-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015913 SCV001176805 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-04 criteria provided, single submitter clinical testing Insufficient evidence

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