Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634893 | SCV000756260 | pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-07-24 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in individual(s) with clinical features of ETFDH-related conditions (PMID: 30424791). This variant is present in population databases (rs767046886, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 10 of the ETFDH gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. ClinVar contains an entry for this variant (Variation ID: 529449). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in retention of intron 10 and introduces a premature termination codon (PMID: 30424791). The resulting mRNA is expected to undergo nonsense-mediated decay. |
Natera, |
RCV001835015 | SCV002084866 | likely pathogenic | Glutaric acidemia type 2C | 2021-01-11 | no assertion criteria provided | clinical testing |