ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.349A>G (p.Met117Val)

dbSNP: rs143180799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890777 SCV002160257 uncertain significance Methylcobalamin deficiency type cblG 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 117 of the MTR protein (p.Met117Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs143180799, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with MTR-related conditions. 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004651785 SCV005146694 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.349A>G (p.M117V) alteration is located in exon 4 (coding exon 4) of the MTR gene. This alteration results from a A to G substitution at nucleotide position 349, causing the methionine (M) at amino acid position 117 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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