ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2798G>A (p.Arg933His) (rs374384263)

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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 RCV000276018 SCV000335945 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Invitae RCV000553120 SCV000657176 uncertain significance Bethlem myopathy 1 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 933 of the COL6A2 protein (p.Arg933His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs374384263, ExAC 0.07%). This variant has not been reported in the literature in individuals with a COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 283689). 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, this variant has uncertain impact on COL6A2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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