ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) (rs201962257)

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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 RCV000726400 SCV000344396 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
GeneDx RCV000726400 SCV000617175 uncertain significance not provided 2017-09-12 criteria provided, single submitter clinical testing The R1075W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1075W variant is observed in 37/25,768 (0.14%) alleles from individuals of Finnish background in large population cohorts, and in 1 unaffected homozygous individual undergoing testing at GeneDx (Lek et al., 2016). 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. This substitution occurs at a position that is conserved in mammals; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with COL6A3-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Invitae RCV000653597 SCV000775480 likely benign Bethlem myopathy 1 2020-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765645 SCV000896974 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001136882 SCV001296756 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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