Submissions for variant NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)

gnomAD frequency: 0.03595  dbSNP: rs1048719

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250898	SCV000304058	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000250898	SCV000336771	benign	not specified	2015-11-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384587	SCV000455362	benign	Tay-Sachs disease, variant AB	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.
Invitae	RCV000384587	SCV001718998	benign	Tay-Sachs disease, variant AB	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000675620	SCV001908610	benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675620	SCV000801320	benign	not provided	2015-12-15	no assertion criteria provided	clinical testing