ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1461C>T (p.Tyr487=)

gnomAD frequency: 0.00003  dbSNP: rs757568196
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424215 SCV000532207 likely benign not specified 2016-09-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000917962 SCV001063256 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703983 SCV005219321 likely benign not provided criteria provided, single submitter not provided

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.