ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.968-11G>A

gnomAD frequency: 0.00001  dbSNP: rs755131342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896141 SCV002166625 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the CPT1A gene. It does not directly change the encoded amino acid sequence of the CPT1A protein. This variant is present in population databases (rs755131342, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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