ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) (rs137964147)

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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 RCV000724794 SCV000227237 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000724794 SCV000567801 uncertain significance not provided 2018-08-07 criteria provided, single submitter clinical testing The R68C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R68C variant is observed in 41/34,418 (0.12%) alleles from individuals of Latino background (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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Genetic Services Laboratory, University of Chicago RCV000175702 SCV000594191 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV000653530 SCV000775411 uncertain significance Bethlem myopathy 1 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 68 of the COL6A1 protein (p.Arg68Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs137964147, ExAC 0.06%). This variant has not been reported in the literature in individuals with COL6A1-related disease. ClinVar contains an entry for this variant (Variation ID: 195150). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000754716 SCV000882599 likely pathogenic Ullrich congenital muscular dystrophy 1 2018-10-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764263 SCV000895276 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2018-10-31 criteria provided, single submitter clinical testing

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