ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1804_1805CT[1] (p.Leu602_Cys603insTer) (rs796051917)

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 RCV000666299 SCV000790568 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000185740 SCV000238668 pathogenic not provided 2013-07-02 criteria provided, single submitter clinical testing The c.1806_1807delCT mutation causes the replacement of a Cysteine codon with a Stop codon at position 603, denoted p.Cys603Ter. This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been previously reported to our knowledge, it is predicted to be a pathogenic mutation. The variant is found in ACADVL panel(s).

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.