Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987507 | SCV001136816 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000987507 | SCV002982458 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2022-07-28 | 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: 802110). This variant has not been reported in the literature in individuals affected with AMACR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 69 of the AMACR protein (p.Leu69Pro). |