ClinVar Miner

Submissions for variant NC_000015.10:g.(?_40413063)_(40414126_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031259 SCV001194565 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2021-06-24 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 7 (c.770_794-762del) of the IVD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). This variant has not been reported in the literature in individuals with IVD-related conditions. 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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