ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176863 SCV000228620 likely benign not specified 2015-11-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416019 SCV000493225 uncertain significance not provided 2016-05-01 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 RCV001082268 SCV000657166 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001143620 SCV001304159 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.

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