ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1285+1G>A

gnomAD frequency: 0.00001  dbSNP: rs767046886
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Total submissions: 2
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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, Inc. RCV001835015 SCV002084866 likely pathogenic Glutaric acidemia type 2C 2021-01-11 no assertion criteria provided clinical testing

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