Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001928399 | SCV002179469 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2022-06-01 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 296 of the AMACR protein (p.Pro296Leu). This variant is present in population databases (rs774180397, gnomAD no frequency). 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: 1413911). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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. |
Fulgent Genetics, |
RCV002484487 | SCV002779766 | uncertain significance | Congenital bile acid synthesis defect 4; Alpha-methylacyl-CoA racemase deficiency | 2021-09-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003416594 | SCV004117392 | uncertain significance | AMACR-related disorder | 2022-11-17 | criteria provided, single submitter | clinical testing | The AMACR c.887C>T variant is predicted to result in the amino acid substitution p.Pro296Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-33989460-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |