Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001936279 | SCV002201676 | uncertain significance | 3-methylglutaconic aciduria type 1 | 2021-02-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with alanine at codon 219 of the AUH protein (p.Gly219Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AUH-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Revvity Omics, |
RCV001936279 | SCV003834530 | uncertain significance | 3-methylglutaconic aciduria type 1 | 2021-09-28 | criteria provided, single submitter | clinical testing |