Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Genetics and Genomics, |
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). |
Baylor Genetics | RCV000770801 | SCV001520179 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2024-02-04 | criteria provided, single submitter | clinical testing |