ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.1390_1391del (p.Leu464fs)

dbSNP: rs1592831898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805760 SCV000945728 uncertain significance Sulfite oxidase deficiency 2018-07-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SUOX gene (p.Leu464Glyfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acids of the SUOX protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with sulfite oxidase deficiency (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000805760 SCV001571240 pathogenic Sulfite oxidase deficiency criteria provided, single submitter research

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