ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.102_103del (p.Val35fs) (rs1057517379)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409035 SCV000487194 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2016-10-24 criteria provided, single submitter clinical testing
Invitae RCV000409035 SCV001230727 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2020-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val38Glyfs*20) in the IVD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with isovaleric acidemia (PMID: 27904153). ClinVar contains an entry for this variant (Variation ID: 371578). 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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