ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.319_322del (p.His107fs)

dbSNP: rs866218814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781054 SCV002024513 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2021-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001781054 SCV002231122 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His107Serfs*16) in the ETFA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ETFA are known to be pathogenic (PMID: 16510302, 23785301). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ETFA-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001781054 SCV004194715 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-03-23 criteria provided, single submitter clinical testing

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