ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.193A>G (p.Lys65Glu) (rs756948486)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637529 SCV000758992 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-10-18 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 65 of the BRCA1 protein (p.Lys65Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs756948486, ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001013755 SCV001174378 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-30 criteria provided, single submitter clinical testing Insufficient evidence
Brotman Baty Institute,University of Washington RCV001076727 SCV001242535 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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