Submissions for variant NM_000405.5(GM2A):c.458T>C (p.Val153Ala)

gnomAD frequency: 0.07011  dbSNP: rs61740602

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000372708	SCV000455368	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	RCV000372708	SCV001728209	benign	Tay-Sachs disease, variant AB	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000675624	SCV001840208	benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675624	SCV000801324	benign	not provided	2015-10-20	no assertion criteria provided	clinical testing