ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)

gnomAD frequency: 0.00205  dbSNP: rs151271754
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175297 SCV000226763 uncertain significance not provided 2014-11-26 criteria provided, single submitter clinical testing
Invitae RCV001081801 SCV001013371 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000175297 SCV001961292 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001081801 SCV004562932 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-10-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937578 SCV004755169 likely benign CPT1A-related disorder 2020-07-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001081801 SCV001452924 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 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.