ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln)

gnomAD frequency: 0.00002  dbSNP: rs776356158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791011 SCV000930276 likely pathogenic Sulfite oxidase deficiency 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV000791011 SCV002229529 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 459 of the SUOX protein (p.Arg459Gln). This variant is present in population databases (rs776356158, gnomAD 0.007%). This missense change has been observed in individual(s) with sulfite oxidase deficiency (PMID: 31870341). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 638376). 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%. For these reasons, this variant has been classified as Pathogenic.

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