ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.870dup (p.Pro291fs)

dbSNP: rs759159766
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555769 SCV000631892 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro294Alafs*38) in the IVD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with isovaleric acidemia (PMID: 10677295). This variant is also known as iG870. ClinVar contains an entry for this variant (Variation ID: 459932). Studies have shown that this premature translational stop signal alters IVD gene expression (PMID: 10677295). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000555769 SCV001163387 pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Counsyl RCV000555769 SCV001132238 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2015-03-17 no assertion criteria provided clinical testing
Natera, Inc. RCV000555769 SCV002094405 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2017-11-11 no assertion criteria provided clinical testing

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