Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001373924 | SCV001570668 | uncertain significance | 3-methylglutaconic aciduria type 1 | 2018-06-19 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with AUH-related disease. This variant is present in population databases (rs531669666, ExAC 0.01%). This sequence change replaces isoleucine with threonine at codon 108 of the AUH protein (p.Ile108Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. |
| Ambry Genetics | RCV002550934 | SCV003586694 | uncertain significance | Inborn genetic diseases | 2021-10-27 | criteria provided, single submitter | clinical testing | The c.323T>C (p.I108T) alteration is located in exon 2 (coding exon 2) of the AUH gene. This alteration results from a T to C substitution at nucleotide position 323, causing the isoleucine (I) at amino acid position 108 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |