ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) (rs74315296)

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
Invitae RCV000202513 SCV000822556 likely pathogenic Carnitine palmitoyltransferase II deficiency 2020-03-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 503 of the CPT2 protein (p.Arg503Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs74315296, ExAC 0.002%). This variant has been reported as homozygous, in combination with another pathogenic variant, or as simple heterozygous in individuals affected with CPT2 deficiency (PMID: 17372854, 10090476, 10873395, 21913903, 19762733). ClinVar contains an entry for this variant (Variation ID: 8959). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV001004160 SCV001162926 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, lethal neonatal criteria provided, single submitter clinical testing
OMIM RCV000009519 SCV000029737 pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 2000-06-01 no assertion criteria provided literature only
GeneReviews RCV000202513 SCV000153668 pathogenic Carnitine palmitoyltransferase II deficiency 2017-03-16 no assertion criteria provided literature only

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.