Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000357593 | SCV000380313 | uncertain significance | Sulfite oxidase deficiency | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Labcorp Genetics |
RCV000357593 | SCV001536843 | uncertain significance | Sulfite oxidase deficiency | 2024-05-15 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 328 of the SUOX protein (p.Thr328Ile). This variant is present in population databases (rs540792428, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with SUOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 309839). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Neuberg Centre For Genomic Medicine, |
RCV000357593 | SCV004176632 | uncertain significance | Sulfite oxidase deficiency | 2023-02-14 | criteria provided, single submitter | clinical testing | The missense c.983C>T (p.Thr328Ile) variant in SUOX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr328Ile variant is reported with an allele frequency of 0.01% in the gnomAD exomes database. This variant has been reported to the ClinVar database as Uncertain Significance. The amino acid change p.Thr328Ile in SUOX is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Thr at position 328 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS). |