ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) (rs771561971)

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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 RCV000390400 SCV000464508 uncertain significance Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000801780 SCV000941575 uncertain significance METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE 2018-08-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 449 of the LMBRD1 protein (p.Ile449Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs771561971, ExAC 0.003%). This variant has not been reported in the literature in individuals with LMBRD1-related disease. ClinVar contains an entry for this variant (Variation ID: 357768). 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 methionine 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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