ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)

dbSNP: rs515726173
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414700 SCV000491571 pathogenic not provided 2017-08-24 criteria provided, single submitter clinical testing The c.534_558del25insT pathogenic variant in the CPT2 gene results in the deletion of 9 amino acids and the insertion of 1 incorrect amino acid at positions 178 through 186, denoted p.Leu178_Ile186delinsF. This variant has been reported previously in association with carnitine palmitoyltransferase II (CPT2) deficiency in several unrelated individuals who were homozygous for c.534_558del25insT or heterozygous for c.534_558del25insT and another pathogenic variant in the CPT2 gene (Yahyaoui et al., 2011; Yang et al., 1998; Sigauke et al., 2003; Smeets et al., 2003). Therefore, we interpret c.534_558del25insT to be a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000202494 SCV000954462 pathogenic Carnitine palmitoyltransferase II deficiency 2018-11-16 criteria provided, single submitter clinical testing This variant, c.534_558delinsT, is a complex sequence change that results in the deletion of 9 amino acids and the insertion of 1 amino acid of the CPT2 protein (p.Leu178_Ile186delinsPhe), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772240606, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another CPT2 variant in individuals affected with carnitine palmitoyltransferase II deficiency (PMID: 9758712, 14615409, 21641254), and has been shown to segregate with disease in a family (PMID: 12560872). This variant is also known as 534T ins/del 25 in the literature. ClinVar contains an entry for this variant (Variation ID: 130885). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003398720 SCV004118768 pathogenic CPT2-related disorder 2022-12-21 criteria provided, single submitter clinical testing The CPT2 c.534_558delinsT variant is predicted to result in an in-frame deletion and insertion. This variant has been reported in the homozygous and compound heterozygous state in individuals with carnitine palmitoyltransferase II deficiency (CTP II) (534T ins/del 25 in Yang et al. 1998. PubMed ID: 9758712; 533_534insT; 534_558-del in Sigauke et al. 2003. PubMed ID: 14615409; 534T ins/del 25 in Smeets et al. 2003. PubMed ID: 12560872; Yahyaoui et al. 2011. PubMed ID: 21641254; Fanin et al. 2012. PubMed ID: 21913903). This variant is interpreted as pathogenic.
Baylor Genetics RCV003474723 SCV004211030 pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-03-30 criteria provided, single submitter clinical testing
OMIM RCV002274921 SCV000029741 pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form 2003-01-01 no assertion criteria provided literature only
GeneReviews RCV000202494 SCV000153659 not provided Carnitine palmitoyltransferase II deficiency no assertion provided literature only
Eurofins Ntd Llc (ga) RCV000414700 SCV000230025 uncertain significance not provided 2014-12-02 flagged submission 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.