ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)

gnomAD frequency: 0.00001  dbSNP: rs763541530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051962 SCV001216147 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 272 of the ETFDH protein (p.Gly272Arg). This variant is present in population databases (rs763541530, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of multiple Acyl-CoA dehydrogenase deficiency (PMID: 17977044, 28914566, 32007756). ClinVar contains an entry for this variant (Variation ID: 848248). 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 with a positive predictive value of 80%. 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.
GeneDx RCV001545243 SCV001764535 likely pathogenic not provided 2020-04-15 criteria provided, single submitter clinical testing Not observed at a 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: 30948559, 26990548, 17977044, 28914566, 32007756)
Baylor Genetics RCV001051962 SCV004194849 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-03-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001051962 SCV001457085 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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