ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) (rs75120695)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079877 SCV000111760 benign not specified 2013-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000079877 SCV000196786 likely benign not specified 2018-01-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare 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,PreventionGenetics RCV000079877 SCV000308290 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281111 SCV000436763 benign Collagen VI-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 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990371 SCV001141325 benign Bethlem myopathy 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000420180 SCV001248176 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing

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