Total submissions: 4
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, |
RCV000723006 | SCV000854137 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |