Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001887432 | SCV002165851 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2021-08-14 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 123 of the AMACR protein (p.Asp123Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs771615304, ExAC 0.02%). This variant has been observed in individual(s) with alpha-methylacyl-CoA racemase deficiency (PMID: 23286897). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |