ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.1228+1G>A

dbSNP: rs943046481
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
Baylor Genetics RCV001334937 SCV001527949 likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2018-11-19 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001334937 SCV002238009 likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2022-08-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1032758). Disruption of this splice site has been observed in individual(s) with clinical features of deficiency of 2-methylbutyryl-CoA dehydrogenase (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 10 of the ACADSB gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.

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.