Submissions for variant NM_020208.4(SLC6A20):c.1585A>G (p.Ile529Val)

gnomAD frequency: 0.00712  dbSNP: rs61731475

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001150550	SCV001311628	likely benign	Hyperglycinuria	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.
CeGaT Center for Human Genetics Tuebingen	RCV003438683	SCV004154337	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SLC6A20: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003438683	SCV005260796	likely benign	not provided		criteria provided, single submitter	not provided