ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs) (rs1131691553)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493543 SCV000582369 pathogenic not provided 2015-09-01 criteria provided, single submitter clinical testing The c.1630_1645del16 deletion in the ACADVL gene causes a frameshift starting with codon Alanine 544, changes this amino acid to a Proline residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Ala544ProfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this deletion has not been previously reported to our knowledge, we interpret c.1630_1645del16 to be a pathogenic variant.

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.