ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly)

dbSNP: rs1580422659
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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 RCV001971135 SCV002258130 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2021-04-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 expected to disrupt ETFDH protein function. This variant has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 30027710). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 452 of the ETFDH protein (p.Arg452Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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