Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000799422 | SCV000939083 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2018-07-18 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 2-9 of the ETFDH gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ETFDH-related disease. Loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |