ClinVar Miner

Submissions for variant NM_002225.3(IVD):c.1188delT (p.Leu397Phefs) (rs786204613)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169373 SCV000220751 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2014-09-30 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726298 SCV000343519 likely pathogenic not provided 2016-07-14 criteria provided, single submitter clinical testing
Invitae RCV000169373 SCV000819904 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-04-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the IVD gene (p.Leu397Phefs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acids of the IVD protein. 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 been reported in an individual affected with IVA (PMID: 2063866). ClinVar contains an entry for this variant (Variation ID: 188993). Experimental studies have shown that this truncating variant abrogates IVD enzyme activity (PMID: 10713113). Another missense substitution (p.Glu411Lys) that lies downstream of this variant has been reported as homozygous in an individual affected with IVA (PMID: 22960500). For these reasons, this variant has been classified as Pathogenic.

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