ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2068A>G (p.Lys690Glu) (rs587781448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129365 SCV000184129 uncertain significance Hereditary cancer-predisposing syndrome 2013-12-18 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV001069717 SCV001234907 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-02-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 690 of the BRCA1 protein (p.Lys690Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs587781448, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 141034). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.

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