Submissions for variant NM_198994.3(TGM6):c.940G>A (p.Val314Met)

gnomAD frequency: 0.00021  dbSNP: rs202184911

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000343783	SCV000433146	benign	Spinocerebellar ataxia type 35	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000901318	SCV001045683	likely benign	not provided	2023-04-13	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288076	SCV001474914	benign	not specified	2020-01-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000901318	SCV004702137	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TGM6: BS1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000343783	SCV004805700	uncertain significance	Spinocerebellar ataxia type 35	2024-03-29	criteria provided, single submitter	clinical testing