Submissions for variant NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)

gnomAD frequency: 0.00070  dbSNP: rs148195895

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724110	SCV000232179	uncertain significance	not provided	2014-11-25	criteria provided, single submitter	clinical testing
Invitae	RCV001083235	SCV000559636	likely benign	GM3 synthase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000179862	SCV000597291	likely benign	not specified	2015-11-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083235	SCV001300607	uncertain significance	GM3 synthase deficiency	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000724110	SCV004155130	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	ST3GAL5: BP4, BP7