ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)

dbSNP: rs748900391
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756731 SCV000884625 likely pathogenic not provided 2017-06-19 criteria provided, single submitter clinical testing The c.842_843del variant (rs748900391) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is listed in the Exome Aggregation Consortium (ExAC) browser with an overall frequency of 0.0008 percent (identified in 1 out of 121,266 chromosomes). The c.842_843del variant introduces a frameshift into the terminal exon (exon 6) and is predicted to result in a truncated protein product. While this variant is not predicted to induce nonsense mediated mRNA decay, it nonetheless removes the dimerization domain, and other truncating variants that also remove this domain have been identified in patients with clinical symptoms of sulfite oxidase deficiency (Johnson 2002). Therefore, based on the available information, the c.842_843del variant is likely to be pathogenic.
Ambry Genetics RCV001267499 SCV001445680 pathogenic Inborn genetic diseases 2018-03-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155304 SCV003844612 likely pathogenic Sulfocysteinuria 2023-02-13 criteria provided, single submitter clinical testing Variant summary: SUOX c.842_843delTG (p.Leu281ArgfsX19) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been associated with Sulfite Oxidase deficiency in HGMD. The variant allele was found at a frequency of 4e-06 in 251372 control chromosomes. To our knowledge, no occurrence of c.842_843delTG in individuals affected with Sulfite Oxidase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic (n=1) and likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as likely pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.