Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035116 | SCV001198431 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-08-04 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 834431). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ETFDH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu519Valfs*9) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301). |
Baylor Genetics | RCV001035116 | SCV004194791 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-09-13 | criteria provided, single submitter | clinical testing |