ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1459-1G>A

dbSNP: rs1057517046
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV001037328 SCV000486663 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2016-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001037328 SCV001200738 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2019-05-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CPT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 371151). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 12 of the CPT1A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Baylor Genetics RCV001037328 SCV004211003 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-04-10 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.