ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.-9A>T

gnomAD frequency: 0.00002  dbSNP: rs373594717
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668145 SCV000792697 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2017-07-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668145 SCV001163378 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Invitae RCV000668145 SCV003521110 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2022-08-17 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the IVD mRNA. The next in-frame methionine is located at codon 4. This variant is present in population databases (rs373594717, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with IVD-related conditions. ClinVar contains an entry for this variant (Variation ID: 552811). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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.