ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.693+1G>A

dbSNP: rs1055176086
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
Invitae RCV001217441 SCV001389281 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2024-01-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the CPT1A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 33845545). ClinVar contains an entry for this variant (Variation ID: 946554). 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 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.
Baylor Genetics RCV001217441 SCV004210999 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2023-04-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001217441 SCV002092965 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2020-03-30 no assertion criteria provided 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.