ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.960G>T (p.Gln320His) (rs367814475)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Genomics,Institute for Developing Science and Health Initiatives Foundation RCV000770801 SCV000887491 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-04-16 criteria provided, single submitter research The c.969G>T (NG_011986.2:g.14998G>T) homozygous mutation in exon 9 of IVD results in a p.Gln323His protein variant as reported in a single proven Isovaleric Acidemia patient in Bangladesh (biochemically using LC/MS/MS and GC/MS technologies). This mutation occurred heterozygously in the patient's parents and was absent in 100 healthy controls. This recently described mutation has previously remained uncharacterized, although several bioinformatics prediction tools used in tandem have supported a high probability for pathogenicity as confirmed by our clinical evaluation with the child suffering from many of the classical symptoms associated with the chronic intermittent form. Therefore, the p.Gln323His variant of IVD corresponds to a probable pathogenic classification based on clinical and bioinformatics based evidence, especially given that manifestation of the disease is solely correlated with IVD gene mutations (Schulne et al. 2018, Hertecant et al. 2012).

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