ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)

gnomAD frequency: 0.00001  dbSNP: rs28936674
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
Counsyl RCV000009516 SCV000790198 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000202437 SCV001404397 pathogenic Carnitine palmitoyltransferase II deficiency 2023-08-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs28936674, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 174 of the CPT2 protein (p.Glu174Lys). This missense change has been observed in individual(s) with carnitine palmitoyltransferase II deficiency (PMID: 8682496, 9600456, 18577113). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CPT2 function (PMID: 9600456). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CPT2 protein function. ClinVar contains an entry for this variant (Variation ID: 8957).
Genome-Nilou Lab RCV000009516 SCV004179352 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473064 SCV004211063 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-03-16 criteria provided, single submitter clinical testing
OMIM RCV000009516 SCV000029734 pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 1996-07-01 no assertion criteria provided literature only
GeneReviews RCV000202437 SCV000153658 not provided Carnitine palmitoyltransferase II deficiency no assertion 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.