Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795167 | SCV000934611 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2022-02-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 170 of the ETFA protein (p.Gly170Glu). This variant is present in population databases (rs780998008, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ETFA-related conditions. ClinVar contains an entry for this variant (Variation ID: 641837). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Natera, |
RCV000795167 | SCV001454936 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2020-04-19 | no assertion criteria provided | clinical testing |