Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001935066 | SCV002174567 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2021-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan with serine at codon 283 of the AMACR protein (p.Trp283Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AMACR-related conditions. 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. 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. |
| Ambry Genetics | RCV004041782 | SCV004892726 | uncertain significance | Inborn genetic diseases | 2024-02-28 | criteria provided, single submitter | clinical testing | The c.848G>C (p.W283S) alteration is located in exon 5 (coding exon 5) of the AMACR gene. This alteration results from a G to C substitution at nucleotide position 848, causing the tryptophan (W) at amino acid position 283 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |