ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1179del (p.Leu394fs)

dbSNP: rs786204613
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Total submissions: 6
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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
Eurofins Ntd Llc (ga) RCV000726298 SCV000343519 likely pathogenic not provided 2016-07-14 criteria provided, single submitter clinical testing
Invitae RCV000169373 SCV000819904 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu397Phefs*9) in the IVD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the IVD protein. This variant is present in population databases (rs753807321, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with IVA (PMID: 2063866). ClinVar contains an entry for this variant (Variation ID: 188993). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects IVD function (PMID: 10713113). This variant disrupts a region of the IVD protein in which other variant(s) (p.Glu411Lys) have been observed in individuals with IVD-related conditions (PMID: 22960500). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000169373 SCV001163390 pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000169373 SCV003932292 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-02-05 criteria provided, single submitter clinical testing PVS1, PS3, PM2, PM3, PP4
OMIM RCV002284192 SCV000023910 pathogenic Isovaleric acidemia, type III 1991-07-01 no assertion criteria provided literature only

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