ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)

gnomAD frequency: 0.00001  dbSNP: rs765742496
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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 RCV002047712 SCV002289536 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-07-12 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the ETFDH mRNA. It is expected to extend the length of the ETFDH protein by 13 additional amino acid residues. This variant is present in population databases (rs765742496, gnomAD 0.003%). This protein extension has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 17977044, 31418342). ClinVar contains an entry for this variant (Variation ID: 1504108). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV002047712 SCV004194799 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-03-25 criteria provided, single submitter clinical testing

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