ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln)

gnomAD frequency: 0.00004  dbSNP: rs771456968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704964 SCV000238837 uncertain significance not provided 2020-08-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002517822 SCV003265504 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 494 of the ETFDH protein (p.Glu494Gln). This variant is present in population databases (rs771456968, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ETFDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 203708). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ETFDH protein function. 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.
Ambry Genetics RCV003165419 SCV003865593 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.1480G>C (p.E494Q) alteration is located in exon 12 (coding exon 12) of the ETFDH gene. This alteration results from a G to C substitution at nucleotide position 1480, causing the glutamic acid (E) at amino acid position 494 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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