Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598106 | SCV000707759 | uncertain significance | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001854087 | SCV002147638 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 43 of the AMACR protein (p.Val43Arg). This variant is present in population databases (no rsID available, gnomAD 0.3%). This variant has not been reported in the literature in individuals affected with AMACR-related conditions. ClinVar contains an entry for this variant (Variation ID: 501410). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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. |