ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.857del (p.Ile286fs)

gnomAD frequency: 0.00004  dbSNP: rs772921347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987506 SCV001136813 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000987506 SCV002260111 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile286Thrfs*9) in the AMACR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 97 amino acid(s) of the AMACR protein. This variant is present in population databases (rs772921347, gnomAD 0.009%). 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: 802109). 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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