ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2411T>C (p.Ile804Thr)

gnomAD frequency: 0.00001  dbSNP: rs147387989
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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 RCV001236854 SCV001409592 uncertain significance Methylcobalamin deficiency type cblG 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 804 of the MTR protein (p.Ile804Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs147387989, ExAC 0.001%). This missense change has been observed in individuals with cobalamin G deficiency (PMID: 12068375; Invitae). 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. 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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