ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys)

dbSNP: rs1666509852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002038113 SCV002273994 uncertain significance Methylcobalamin deficiency type cblG 2021-02-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MTR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1108 of the MTR protein (p.Glu1108Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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