ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.8A>G (p.Tyr3Cys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003118978 SCV003789559 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-03-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 3 of the MTO1 protein (p.Tyr3Cys). This variant is present in population databases (rs769183932, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. 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 cysteine 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 RCV003162173 SCV003882165 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.8A>G (p.Y3C) alteration is located in exon 1 (coding exon 1) of the MTO1 gene. This alteration results from a A to G substitution at nucleotide position 8, causing the tyrosine (Y) at amino acid position 3 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004763595 SCV005370286 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV004763595 SCV005407884 uncertain significance not provided 2024-06-14 criteria provided, single submitter clinical testing BP4, PM2

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.