ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) (rs771226867)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641157 SCV000762784 uncertain significance METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE 2017-12-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 266 of the LMBRD1 protein (p.Lys266Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs771226867, ExAC 0.02%). This variant has not been reported in the literature in individuals with LMBRD1-related disease. 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: "Benign"; Align-GVGD: "Class C15"). 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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