ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.43del (p.Ala15fs)

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Total submissions: 1
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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.

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