ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.599del (p.Pro200fs)

dbSNP: rs1566936542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714868 SCV000845613 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-08-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000714868 SCV001163385 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Invitae RCV000714868 SCV001407796 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro203Leufs*6) in the IVD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 587624). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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