Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001865099 | SCV002118991 | uncertain significance | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 2021-06-14 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MTO1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 547 of the MTO1 protein (p.Ala547Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. |
| Ambry Genetics | RCV002548016 | SCV003667985 | uncertain significance | Inborn genetic diseases | 2022-12-02 | criteria provided, single submitter | clinical testing | The c.1759G>A (p.A587T) alteration is located in exon 11 (coding exon 11) of the MTO1 gene. This alteration results from a G to A substitution at nucleotide position 1759, causing the alanine (A) at amino acid position 587 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |