Submissions for variant NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg)

gnomAD frequency: 0.17151  dbSNP: rs1138484

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118422	SCV000152827	benign	not specified	2013-08-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000118422	SCV000309856	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000305958	SCV000432361	benign	GM3 synthase 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000713528	SCV000844150	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Mendelics	RCV000305958	SCV001135909	benign	GM3 synthase deficiency	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000305958	SCV001730495	benign	GM3 synthase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000713528	SCV001937294	benign	not provided	2019-01-21	criteria provided, single submitter	clinical testing