Submissions for variant NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu)

gnomAD frequency: 0.00351  dbSNP: rs141735896

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000403618	SCV000380311	likely benign	Sulfite oxidase deficiency	2018-01-13	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	RCV000403618	SCV001122571	benign	Sulfite oxidase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000403618	SCV001138754	likely benign	Sulfite oxidase deficiency	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000403618	SCV001158818	benign	Sulfite oxidase deficiency	2019-06-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000403618	SCV002809460	likely benign	Sulfite oxidase deficiency	2021-10-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003391110	SCV004133447	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	SUOX: BS2
PreventionGenetics, part of Exact Sciences	RCV003983011	SCV004796731	likely benign	SUOX-related condition	2022-02-25	criteria provided, single submitter	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).