ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)

dbSNP: rs771393519
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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 RCV001783210 SCV002229762 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2021-12-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1322835). This variant has not been reported in the literature in individuals affected with ETFDH-related conditions. This variant is present in population databases (rs771393519, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Pro545Thrfs*4) in the ETFDH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 73 amino acid(s) of the ETFDH protein. This variant disrupts a region of the ETFDH protein in which other variant(s) (p.Trp603*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001783210 SCV004194780 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-10-06 criteria provided, single submitter clinical testing

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