ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.232C>T (p.Arg78Ter) (rs765815516)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413831 SCV000492234 pathogenic not provided 2016-11-23 criteria provided, single submitter clinical testing The R81X nonsense variant in the IVD gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, it is interpreted to be a pathogenic variant.
Baylor Genetics RCV000410639 SCV001163381 pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Invitae RCV000410639 SCV001396226 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2019-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg81*) in the IVD gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with IVD-related conditions. ClinVar contains an entry for this variant (Variation ID: 370807). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000410639 SCV000486216 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2016-04-20 no assertion criteria provided clinical testing

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