ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2788C>T (p.Arg930Cys) (rs886057168)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000337382 SCV000436810 uncertain significance Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392176 SCV000436811 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653558 SCV000775439 uncertain significance Bethlem myopathy 1 2018-03-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 930 of the COL6A2 protein (p.Arg930Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 340383). 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: "Tolerated"; PolyPhen-2: "Possibly 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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