Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045770 | SCV001209641 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2022-06-22 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 843206). This missense change has been observed in individuals with multiple acyl-CoA dehydrogenase deficiency (PMID: 31268564; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 373 of the ETFDH protein (p.Ser373Phe). |
Natera, |
RCV001273691 | SCV001457030 | uncertain significance | Glutaric acidemia type 2C | 2020-03-11 | no assertion criteria provided | clinical testing |