ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.890C>T (p.Ala297Val)

gnomAD frequency: 0.00001  dbSNP: rs796051983
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
Counsyl RCV000412245 SCV000486747 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2016-08-02 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000412245 SCV001424444 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Invitae RCV000412245 SCV003442829 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 300 of the IVD protein (p.Ala300Val). This variant is present in population databases (rs796051983, gnomAD 0.006%). This missense change has been observed in individual(s) with isovaleric acidemia (PMID: 25220015, 31707166, 35782626). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.890C>T p.Ala268Val; c.890C >T; p.Ala297Val . ClinVar contains an entry for this variant (Variation ID: 203792). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV000412245 SCV003831777 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2021-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000412245 SCV004198024 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-07-22 criteria provided, single submitter clinical testing

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.