ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.456G>A (p.Lys152=)

gnomAD frequency: 0.00001  dbSNP: rs886044117
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
Eurofins Ntd Llc (ga) RCV000370731 SCV000343518 uncertain significance not provided 2016-07-14 criteria provided, single submitter clinical testing
Invitae RCV001057302 SCV001221787 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2024-01-29 criteria provided, single submitter clinical testing This sequence change affects codon 155 of the IVD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IVD protein. This variant also falls at the last nucleotide of exon 4, which is part of the consensus splice site for this exon. This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 289203). 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. 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.
Natera, Inc. RCV001057302 SCV001461292 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided 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.