ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.243G>A (p.Trp81Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808800 SCV000948922 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp84*) in the IVD gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs540375168, ExAC 0.006%). This variant has not been reported in the literature in individuals with IVD-related disease. Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). For these reasons, this variant has been classified as Pathogenic.

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