ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.593_594del (p.Glu198fs)

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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 RCV003512635 SCV004330937 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu198Valfs*3) 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 not present in population databases (gnomAD no frequency). 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.

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