ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.322_323del (p.Ile108fs)

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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 RCV003624340 SCV004529419 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ETFA-related conditions. This variant is present in population databases (rs765342744, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ile108Leufs*20) 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).

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