ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.2011A>G (p.Met671Val)

gnomAD frequency: 0.00010  dbSNP: rs374410917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001866806 SCV002120262 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 671 of the MTO1 protein (p.Met671Val). This variant is present in population databases (rs374410917, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355211). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002547918 SCV003526390 uncertain significance Inborn genetic diseases 2022-03-25 criteria provided, single submitter clinical testing The c.2131A>G (p.M711V) alteration is located in exon 13 (coding exon 13) of the MTO1 gene. This alteration results from a A to G substitution at nucleotide position 2131, causing the methionine (M) at amino acid position 711 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481141 SCV004227288 uncertain significance not provided 2023-05-26 criteria provided, single submitter clinical testing BP4

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