ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1480G>A (p.Gly494Ser)

gnomAD frequency: 0.00010  dbSNP: rs139449947
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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 RCV000690211 SCV000817890 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 494 of the MTO1 protein (p.Gly494Ser). This variant is present in population databases (rs139449947, gnomAD 0.02%). 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: 569553). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MTO1 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.
GeneDx RCV002305529 SCV002599738 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002547148 SCV003532786 uncertain significance Inborn genetic diseases 2022-10-06 criteria provided, single submitter clinical testing The c.1600G>A (p.G534S) alteration is located in exon 10 (coding exon 10) of the MTO1 gene. This alteration results from a G to A substitution at nucleotide position 1600, causing the glycine (G) at amino acid position 534 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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