ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs)

dbSNP: rs1064796104
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
GeneDx RCV000487087 SCV000572531 likely pathogenic not provided 2016-12-30 criteria provided, single submitter clinical testing The c.602_603delAC variant in the ACADVL gene causes a frameshift starting with codon Tyrosine 201, changes this amino acid to a Serine residue and creates a premature Stop codon at position 51 of the new reading frame, denoted p.Tyr201SerfsX51. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is expected to be a likely pathogenic variant.
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV003322775 SCV004028496 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-05-10 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.