Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000228551 | SCV000289867 | uncertain significance | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with serine at codon 573 of the MTO1 protein (p.Thr573Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs774500449, ExAC 0.002%). 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 serine 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 | RCV004020835 | SCV005007968 | uncertain significance | Inborn genetic diseases | 2024-01-03 | criteria provided, single submitter | clinical testing | The c.1837A>T (p.T613S) alteration is located in exon 11 (coding exon 11) of the MTO1 gene. This alteration results from a A to T substitution at nucleotide position 1837, causing the threonine (T) at amino acid position 613 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |