Submissions for variant NM_001715.3(BLK):c.1021T>G (p.Ser341Ala)

dbSNP: rs567720261

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000664120	SCV000787572	likely benign	Monogenic diabetes	2017-05-22	criteria provided, single submitter	research	ACMG Criteria:BP4 (8 predictors), BS2 (2 cases and 6 controls in T2DM)
Illumina Laboratory Services, Illumina	RCV001162885	SCV001324864	benign	Maturity-onset diabetes of the young type 11	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002465748	SCV002605362	likely benign	Systemic lupus erythematosus		criteria provided, single submitter	research	BLK gene is associated with Systemic lupus erythematosus, sjogren's syndrome and other systemic inflammatory conditions. However no sufficient evidence is found to ascertain the role of this particular variant rs567720261, yet.