ClinVar Miner

Submissions for variant NM_001609.3(ACADSB):c.1165A>G (p.Met389Val)

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
Invitae RCV000822836 SCV000963653 pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 389 of the ACADSB protein (p.Met389Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs201877440, ExAC 0.01%). This variant has been observed both as homozygous and in combination with another ACADSB variant in multiple individuals affected with SCAD deficiency and it is a known to be a highly prevalent variant in the Hmong population (PMID: 12837870, 23712021). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change causes exon 10 skipping in the ACADSB mRNA (PMID: 12837870). For these reasons, this variant has been classified as Pathogenic.

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.