Submissions for variant NM_198994.3(TGM6):c.1171G>A (p.Val391Met)

gnomAD frequency: 0.00026  dbSNP: rs116904482

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000277947	SCV000433153	benign	Spinocerebellar ataxia type 35	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 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	RCV000713829	SCV000844466	benign	not provided	2018-05-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000713829	SCV002323504	benign	not provided	2023-10-04	criteria provided, single submitter	clinical testing
O&I group, Department of Genetics, University Medical Center of Groningen	RCV000277947	SCV001960862	uncertain significance	Spinocerebellar ataxia type 35	2021-07-22	no assertion criteria provided	research