Submissions for variant NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp)

gnomAD frequency: 0.00392  dbSNP: rs76537761

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194521	SCV000249070	benign	not specified	2021-03-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000194521	SCV000336195	benign	not specified	2015-10-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000383805	SCV000380319	likely benign	Sulfite oxidase deficiency	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000383805	SCV001097689	benign	Sulfite oxidase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917776	SCV004729691	benign	SUOX-related condition	2021-03-29	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).