Submissions for variant NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)

dbSNP: rs1466787789

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625637	SCV002149911	pathogenic	Multiple acyl-CoA dehydrogenase deficiency	2022-05-05	criteria provided, single submitter	clinical testing	This missense change has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 28388738, 31331668). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 381 of the ETFDH protein (p.Gly381Arg). ClinVar contains an entry for this variant (Variation ID: 522495). 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. For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	RCV000625637	SCV000746138	likely pathogenic	Multiple acyl-CoA dehydrogenase deficiency	2017-09-21	no assertion criteria provided	clinical testing