Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003093590 | SCV003470228 | pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 2022-09-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the COQ4 protein in which other variant(s) (p.Arg240Cys) have been determined to be pathogenic (PMID: 25658047, 26185144, 33704555). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with COQ4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg205*) in the COQ4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the COQ4 protein. |
| Fulgent Genetics, |
RCV005045259 | SCV005679927 | likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Spastic ataxia 10, autosomal recessive | 2024-06-01 | criteria provided, single submitter | clinical testing |