Submissions for variant NM_198994.3(TGM6):c.172A>G (p.Met58Val)

gnomAD frequency: 0.93204  dbSNP: rs2076405

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000613428	SCV000433133	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000613428	SCV000744675	benign	Spinocerebellar ataxia type 35	2015-09-21	criteria provided, single submitter	clinical testing
Mendelics	RCV000613428	SCV001142169	benign	Spinocerebellar ataxia type 35	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000993315	SCV001146168	benign	not provided	2019-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000993315	SCV001946868	benign	not provided	2021-04-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28248968, 22160262)
Genome-Nilou Lab	RCV000613428	SCV002098916	benign	Spinocerebellar ataxia type 35	2021-09-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000993315	SCV003340203	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000993315	SCV005315538	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118626	SCV000153034	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613428	SCV000734055	benign	Spinocerebellar ataxia type 35		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118626	SCV001954167	benign	not specified		no assertion criteria provided	clinical testing