Submissions for variant NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp)

gnomAD frequency: 0.00149  dbSNP: rs140719871

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000380208	SCV000433161	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	RCV001289323	SCV001477058	benign	not specified	2019-12-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002520006	SCV003262170	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002520006	SCV004149772	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TGM6: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003922471	SCV004745158	likely benign	TGM6-related disorder	2020-06-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).