ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.498del (p.Glu166fs) (rs398123684)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790681 SCV000231028 pathogenic not provided 2013-08-21 criteria provided, single submitter clinical testing
Invitae RCV000178862 SCV000631889 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2020-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu169Aspfs*11) in the IVD gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs398123684, ExAC 0.004%). This variant has not been reported in the literature in individuals with a IVD-related disease. ClinVar contains an entry for this variant (Variation ID: 94056). Loss-of-function variants in IVD are known to be pathogenic (PMID: 23587913, 10677295). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000178862 SCV001163383 pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Counsyl RCV000178862 SCV001132235 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2014-01-02 no assertion criteria provided clinical testing

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