ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys) (rs113017484)

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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 RCV000394295 SCV000342345 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV000537791 SCV000657212 uncertain significance Bethlem myopathy 1 2017-02-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 210 of the COL6A2 protein (p.Glu210Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs113017484, ExAC 0.05%) but has not been reported in the literature in individuals with a COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 288278). 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 is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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