ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2546G>C (p.Arg849Thr)

dbSNP: rs2147881808
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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 RCV002022017 SCV002266941 uncertain significance Methylcobalamin deficiency type cblG 2021-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 849 of the MTR protein (p.Arg849Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with MTR-related conditions. This variant is not present in population databases (ExAC no frequency).

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