ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)

dbSNP: rs549150456
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489467 SCV000577763 likely pathogenic not provided 2021-10-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31418342, 31589614, 34064479, 31904027)
Mendelics RCV000987487 SCV001136787 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000987487 SCV002783427 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2021-10-26 criteria provided, single submitter clinical testing
Invitae RCV000987487 SCV003467360 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 155 of the ETFDH protein (p.Arg155Gly). This variant is present in population databases (rs549150456, gnomAD 0.003%). This missense change has been observed in individuals with multiple Acyl-CoA dehydrogenase deficiency (PMID: 31418342, 31904027). ClinVar contains an entry for this variant (Variation ID: 427131). 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 with a negative predictive value of 80%. 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.
Baylor Genetics RCV000987487 SCV004194860 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000987487 SCV001452019 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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