Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002710986 | SCV003001175 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala15Profs*29) in the AMACR gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in AMACR cause disease. This variant is present in population databases (no rsID available, gnomAD 0.001%). This premature translational stop signal has been observed in individual(s) with hepatic steatosis (PMID: 34440436). 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. |