ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1117-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003079056 SCV003459949 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2021-12-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. Disruption of this splice site has been observed in individual(s) with glutaric acidemia type 2 (PMID: 28083701). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 9 of the ETFDH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301).
Baylor Genetics RCV003079056 SCV004194879 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2022-04-13 criteria provided, single submitter clinical testing

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