ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) (rs141233891)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416019 SCV000493225 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176863 SCV000228620 likely benign not specified 2015-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000176863 SCV000512733 uncertain significance not specified 2017-02-28 criteria provided, single submitter clinical testing The S895R variant was previously reported in an individual with Bethlem myopathy who also harbored an apparently de novo variant in the COL6A3 gene (Baker et al., 2007). The S895R variant is observed in 32/15944 (0.2%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species. However, this variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Invitae RCV000534445 SCV000657166 likely benign Bethlem myopathy 1 2017-11-14 criteria provided, single submitter clinical testing

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