ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.109G>A (p.Asp37Asn)

dbSNP: rs2141289961
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 RCV001939420 SCV002231147 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2021-10-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the IVD protein in which other variant(s) (p.Arg53His) have been determined to be pathogenic (PMID: 2063866, 10677295, 31442447; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Studies have shown that this variant results in skipping of exon 2, but is expected to preserve the integrity of the reading-frame (PMID: 10677295). 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has been observed in individual(s) with IVD-related conditions (PMID: 9665741). This sequence change replaces aspartic acid with asparagine at codon 40 of the IVD protein (p.Asp40Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.
Baylor Genetics RCV001939420 SCV004198017 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-08-20 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.