ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) (rs140534207)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762044 SCV000892291 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000149919 SCV000331465 benign not specified 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000149919 SCV000196770 uncertain significance not specified 2016-01-26 criteria provided, single submitter clinical testing The S879G variant in the COL6A1 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. This variant is a non-conservative amino acid substitution of a polar Serine with a non-polar Glycine at a residue that is conserved across species. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. The S879G variant was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. We interpret S879G as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000301615 SCV000436566 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542844 SCV000657038 likely benign Bethlem myopathy 1 2017-11-17 criteria provided, single submitter clinical testing
PreventionGenetics RCV000149919 SCV000308206 likely benign not specified 2016-03-15 criteria provided, single submitter clinical testing

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