ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) (rs515726173)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000414700 SCV000230025 uncertain significance not provided 2014-12-02 criteria provided, single submitter clinical testing
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.
Invitae 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.
GeneReviews RCV000202494 SCV000153659 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.