ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile)

dbSNP: rs1432015707
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755990 SCV000883680 uncertain significance not provided 2017-06-19 criteria provided, single submitter clinical testing The p.Met359Ile variant has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is also absent from population databases such as 1000 Genomes, the NHLBI GO Exome Sequencing Project (ESP), and the Exome Aggregation Consortium (ExAC) browser. The methionine at codon 359 is weakly conserved considering 14 species (Alamut software v2.8.1), and several species of mammal have an isoleucine at this position, suggesting this change is evolutionary tolerated. Furthermore, computational analyses suggest this variant does not have a significant effect on CPT1A protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: polymorphism). However, based on the available information, the clinical significance of the p.Met359Ile variant cannot be determined with certainty.
Natera, Inc. RCV001274164 SCV001457992 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-03-10 no assertion criteria provided 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.