Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001279053 | SCV001489532 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2022-02-09 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 426 of the ETFDH protein (p.Lys426Arg). This variant is present in population databases (rs200611086, gnomAD 0.05%). 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: 990933). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Ambry Genetics | RCV002537827 | SCV003532301 | uncertain significance | Inborn genetic diseases | 2022-08-12 | criteria provided, single submitter | clinical testing | The c.1277A>G (p.K426R) alteration is located in exon 10 (coding exon 10) of the ETFDH gene. This alteration results from a A to G substitution at nucleotide position 1277, causing the lysine (K) at amino acid position 426 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001279053 | SCV001466113 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2020-04-21 | no assertion criteria provided | clinical testing |