Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796466 | SCV000935980 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-07-14 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with multiple acyl CoA dehydrogenation deficiency (PMID: 21907580). This sequence change creates a premature translational stop signal (p.Trp603*) in the ETFDH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acid(s) of the ETFDH protein. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 642913). This variant disrupts a region of the ETFDH protein in which other variant(s) (p.Gly611Glu) have been determined to be pathogenic (PMID: 12359134; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |