ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.748_749del (p.Asn250fs)

dbSNP: rs1187631754
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670313 SCV000795149 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-10-27 criteria provided, single submitter clinical testing
Invitae RCV002532099 SCV003496318 pathogenic Carnitine palmitoyltransferase II deficiency 2023-06-29 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: 554639). This premature translational stop signal has been observed in individual(s) with CPT2 deficiency (PMID: 18925671). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn250Phefs*5) in the CPT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT2 are known to be pathogenic (PMID: 16781677, 16996287).
Genome-Nilou Lab RCV000670313 SCV004179402 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472124 SCV004211031 pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-10-22 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.