ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) (rs199929757)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174304 SCV000225583 likely benign not specified 2016-11-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300853 SCV000436669 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353406 SCV000436670 benign Collagen VI-related myopathy 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.
GeneDx RCV000174304 SCV000577072 uncertain significance not specified 2017-04-11 criteria provided, single submitter clinical testing The P357R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P357R variant is observed in 96/58912 (0.16%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved, and missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with COL6A2-related disorders (Stenson et al., 2014).
Invitae RCV001086194 SCV000657094 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762045 SCV000892292 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing

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