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 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
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 RCV000762045 SCV000657094 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762045 SCV000892292 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing

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