ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) (rs375806217)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723595 SCV000109740 uncertain significance not provided 2013-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000723595 SCV000238658 uncertain significance not provided 2015-12-01 criteria provided, single submitter clinical testing The M578T missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a non-polar Methionine residue is replaced by a polar Threonine residue. This change occurs at a highly conserved position in the ACADVL protein. However, in-silico analysis models are not consistent in their predictions of whether M578T is damaging to the ACADVL protein. Therefore, based on the currently available information it is unclear whether M578T is a disease-causing mutation or a rare benign variant. The variant is found in ACADVL panel(s).
Counsyl RCV000669184 SCV000793911 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-11-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000723595 SCV000884962 uncertain significance not provided 2017-12-08 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000669184 SCV001365123 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1733T>C (NP_000009.1:p.Met578Thr) [GRCH38: NC_000017.11:g.7224696T>C] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines.

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.