ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2893C>T (p.Arg965Cys) (rs201188174)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000363837 SCV000335240 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV000653524 SCV000775405 uncertain significance Bethlem myopathy 1 2018-01-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 965 of the COL6A2 protein (p.Arg965Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs201188174, ExAC 0.03%). This variant has not been reported in the literature in individuals with COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 283255). 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.

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