ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.879A>G (p.Pro293=)

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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 RCV002590555 SCV002954298 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-06-08 criteria provided, single submitter clinical testing This sequence change affects codon 293 of the CPT1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CPT1A protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). 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 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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