Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696645 | SCV000825213 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2022-06-15 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 108 of the ETFA protein (p.Ile108Asn). This variant is present in population databases (no rsID available, 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: 574654). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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, |
RCV001825367 | SCV002089810 | uncertain significance | Glutaric acidemia type 2A | 2020-10-14 | no assertion criteria provided | clinical testing |