ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.119G>A (p.Arg40His)

gnomAD frequency: 0.00049  dbSNP: rs117778870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799285 SCV000938940 likely benign Sulfite oxidase deficiency 2025-02-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000799285 SCV001268640 benign Sulfite oxidase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV003938166 SCV004752564 likely benign SUOX-related disorder 2022-11-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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