ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.740-8_740-6delinsGGA

dbSNP: rs2112033482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002001536 SCV002271409 uncertain significance Alpha-methylacyl-CoA racemase deficiency 2021-12-07 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the AMACR gene. It does not directly change the encoded amino acid sequence of the AMACR protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with AMACR-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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