Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000442238 | SCV000511565 | uncertain significance | not provided | 2016-08-02 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Knight Diagnostic Laboratories, |
RCV000442238 | SCV001448855 | uncertain significance | not provided | 2019-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002524732 | SCV002998160 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2022-06-08 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 149 of the AMACR protein (p.Leu149Ile). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 377239). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Mayo Clinic Laboratories, |
RCV000442238 | SCV004227067 | uncertain significance | not provided | 2022-02-24 | criteria provided, single submitter | clinical testing | BP4, PM2 |