ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1285+2T>G

dbSNP: rs2126309523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385003 SCV001584710 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2022-11-22 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1072316). Disruption of this splice site has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 30424791). This variant is not present in population databases (gnomAD no frequency). 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.

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