ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)

dbSNP: rs1561251388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987490 SCV001136790 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-05-28 criteria provided, single submitter clinical testing
3billion RCV000987490 SCV002572604 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.94; 3Cnet: 0.94). Same nucleotide change resulting in same amino acid change (ClinVar ID: VCV000591824 ) and a different missense change at the same codon (p.Gly463Arg / PMID: 32793418 ) have been previously reported to be associated with ETFDH-related disorder. However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Invitae RCV000987490 SCV002986585 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-03-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 463 of the ETFDH protein (p.Gly463Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ETFDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 591824). 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 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.
Gharavi Laboratory, Columbia University RCV000723006 SCV000854137 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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