ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)

dbSNP: rs1478167106
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
Counsyl RCV001203077 SCV000789615 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2017-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001203077 SCV001374223 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 456 of the CPT1A protein (p.Ser456Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with carnitine palmitoyltransferase I deficiency (PMID: 23700290; Invitae). ClinVar contains an entry for this variant (Variation ID: 550677). 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 CPT1A protein function. 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.

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.