Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001897534 | SCV002150456 | uncertain significance | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 2022-03-10 | criteria provided, single submitter | clinical testing | This sequence change affects codon 639 of the MTO1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MTO1 protein. This variant also falls at the last nucleotide of exon 11, which is part of the consensus splice site for this exon. This variant is present in population databases (rs142253409, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
| Gene |
RCV002290788 | SCV002578740 | uncertain significance | not provided | 2022-04-04 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |