ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys) (rs786204151)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168142 SCV000218802 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 809 of the BRCA1 protein (p.Glu809Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This sequence change 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000569597 SCV000673022 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign)
Counsyl RCV000662597 SCV000785228 uncertain significance Breast-ovarian cancer, familial 1 2017-06-16 criteria provided, single submitter clinical testing
Color RCV000569597 SCV000904131 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985388 SCV001133530 uncertain significance not provided 2019-03-25 criteria provided, single submitter clinical testing

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