ClinVar Miner

Submissions for variant NM_000254.2(MTR):c.1862A>G (p.Asp621Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765084 SCV000896293 uncertain significance METHYLCOBALAMIN DEFICIENCY, cblG TYPE; Neural tube defects, folate-sensitive 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000702716 SCV000831582 uncertain significance METHYLCOBALAMIN DEFICIENCY, cblG TYPE 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 621 of the MTR protein (p.Asp621Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs61736440, ExAC 0.09%). This variant has not been reported in the literature in individuals with MTR-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 C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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