Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698394 | SCV000827055 | likely pathogenic | Sulfite oxidase deficiency | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 217 of the SUOX protein (p.Arg217Gln). This variant is present in population databases (rs121908007, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of sulfite oxidase deficiency (PMID: 9600976, 12368985, 33333793). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as R160Q. ClinVar contains an entry for this variant (Variation ID: 3820). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SUOX protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects SUOX function (PMID: 9600976). This variant disrupts the p.Arg217 amino acid residue in SUOX. Other variant(s) that disrupt this residue have been observed in individuals with SUOX-related conditions (PMID: 28725568), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Fulgent Genetics, |
RCV000698394 | SCV002780678 | likely pathogenic | Sulfite oxidase deficiency | 2021-08-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000698394 | SCV000024190 | pathogenic | Sulfite oxidase deficiency | 1998-05-26 | no assertion criteria provided | literature only | |
Gene |
RCV000698394 | SCV000887473 | not provided | Sulfite oxidase deficiency | no assertion provided | literature only |