ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.575C>T (p.Ala192Val) (rs28940874)

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
Invitae RCV000004038 SCV000756745 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2019-10-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 192 of the ACADS protein (p.Ala192Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs28940874, ExAC 0.008%). This variant has been reported as compound heterozygous in an individual affected with SCAD deficiency and neurological symptoms who also carried the homozygous c.625G>A variant (PMID: 11134486). In addition, it has been reported as heterozygous in two individuals who also carried the c.625G>A variant in the homozygous state (PMID: 16926354, 18523805). ClinVar contains an entry for this variant (Variation ID: 3834). Experimental studies have shown that this missense change disrupts ACADS enzymatic activity (PMID: 11134486). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000004038 SCV000024204 pathogenic Deficiency of butyryl-CoA dehydrogenase 2001-01-01 no assertion criteria provided literature only

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.