ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) (rs41289299)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000259293 SCV000361625 uncertain significance Megaloblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000817141 SCV000957686 uncertain significance Megaloblastic anemia due to inborn errors of metabolism 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 3021 of the CUBN protein (p.Glu3021Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs41289299, ExAC 0.07%). This variant has not been reported in the literature in individuals with CUBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 299384). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine 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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