ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1766C>T (p.Thr589Met)

gnomAD frequency: 0.00001  dbSNP: rs756414686
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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV000991316 SCV001142136 uncertain significance Myopathy; Kidney damage; Rhabdomyolysis 2019-12-18 criteria provided, single submitter clinical testing The c.1766C>T variant is not present in publicly available databases like 1000 Genomes and Exome Variant Server (EVS). However it is present in Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency (<0.00001), only in heterozygous state. The variant was also not reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in any other affected individuals. In-silico pathogenicity prediction programs like SIFT, Polyphen, MutationTaster2, CADD etc. predicted this variant as likely deleterious however no functional studies were conducted. Considering the phenotype of the patient and lack of enough evidence for the variant pathogenicity, the variant has been classified as uncertain significance as per the ACMG guidelines.
Fulgent Genetics, Fulgent Genetics RCV002505502 SCV002814678 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2022-03-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145247 SCV003829972 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455011 SCV004178292 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455008 SCV004178293 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455010 SCV004178294 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455009 SCV004178295 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter 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.