Submissions for variant NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)

gnomAD frequency: 0.00369  dbSNP: rs149309844

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178202	SCV000230219	likely benign	not specified	2014-10-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000396931	SCV000432357	likely 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 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	RCV000396931	SCV000559637	benign	GM3 synthase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710231	SCV000615512	benign	not provided	2018-10-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710231	SCV004155131	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ST3GAL5: BP4, BP7