ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.456+22_510delinsGTTG (rs1555403942)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527532 SCV000631887 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2017-06-23 criteria provided, single submitter clinical testing This variant is a complex sequence change that deletes 441 nucleotides from intron 4 and 54 nucleotides from exon 5, and inserts 4 nucleotides deleting an acceptor splice site in intron 4 of the IVD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IVD-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IVD are known to be pathogenic (PMID: 23587913, 10677295, 16602101). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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