ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg)

dbSNP: rs2150312288
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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 RCV001995782 SCV002275429 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2021-02-03 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. This sequence change replaces glycine with arginine at codon 356 of the ETFDH protein (p.Gly356Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ETFDH-related conditions. 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 disrupts the p.Gly356 amino acid residue in ETFDH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29249369). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.

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