Submissions for variant NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)

gnomAD frequency: 0.00315  dbSNP: rs75120695

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079877	SCV000111760	benign	not specified	2013-09-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000420180	SCV000196786	benign	not provided	2020-05-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20981092, 20729548, 19884007, 15689448, 16935502)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079877	SCV000270088	likely benign	not specified	2015-08-25	criteria provided, single submitter	clinical testing	p.Arg784His in exon 26 of COL6A2: This variant is not expected to have clinical significance because it has been identified in 0.7% (445/65546) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs75120695). Although this variant has been reported in 3 individuals w ith muscular dystrophy or myopathy (Lampe 2005, Foley 2009, Tooley 2010), in at least 2 of these cases a pathogenic COL6A2 variant was identified in cis (on the same copy of the gene) with the p.Arg784His variant.
PreventionGenetics, part of Exact Sciences	RCV000079877	SCV000308290	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281111	SCV000436763	benign	Collagen 6-related myopathy	2018-03-06	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000420180	SCV000511471	likely benign	not provided	2017-01-26	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000990371	SCV000657146	benign	Bethlem myopathy 1	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000990371	SCV001141325	benign	Bethlem myopathy 1	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000420180	SCV001248176	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	COL6A2: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000420180	SCV001799174	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079877	SCV001919790	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000420180	SCV001965207	likely benign	not provided		no assertion criteria provided	clinical testing