Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248026 | SCV001421485 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln89Valfs*6) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 30587156). ClinVar contains an entry for this variant (Variation ID: 972080). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001248026 | SCV004194807 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-08-16 | criteria provided, single submitter | clinical testing |