ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1665C>G (p.His555Gln)

gnomAD frequency: 0.00001  dbSNP: rs1557719450
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 RCV001248419 SCV001421906 pathogenic Carnitine palmitoyltransferase II deficiency 2024-12-10 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 555 of the CPT2 protein (p.His555Gln). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with features of autosomal recessive carnitine palmitoyltransferase II deficiency (PMID: 29744303; internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 972398). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt CPT2 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001248419 SCV002092674 uncertain significance Carnitine palmitoyltransferase II deficiency 2021-04-27 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.