ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1586A>G (p.His529Arg)

dbSNP: rs2126316486
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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 RCV002013568 SCV002292799 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-02-01 criteria provided, single submitter clinical testing 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. 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. Studies have shown that this missense change alters ETFDH gene expression (PMID: 24522293). ClinVar contains an entry for this variant (Variation ID: 1507657). This missense change has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 24522293). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 529 of the ETFDH protein (p.His529Arg).
CeGaT Center for Human Genetics Tuebingen RCV003886547 SCV004704305 likely pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing ETFDH: PM2, PM3, PP3, PS3:Supporting

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