ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter)

dbSNP: rs397515543
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000055854 SCV002242715 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-04-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 65641). This variant is also known as p.R446X. This premature translational stop signal has been observed in individual(s) with carnitine palmitoyl transferase I deficiency (PMID: 19345525). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg447*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268).
Baylor Genetics RCV000055854 SCV004210998 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-12-13 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.