Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001890280 | SCV002149673 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2022-09-07 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs770694101, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 171 of the AMACR protein (p.Arg171His). This variant has not been reported in the literature in individuals affected with AMACR-related conditions. 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: 1382430). |