ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8416G>A (p.Glu2806Lys) (rs775200499)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693375 SCV000821242 uncertain significance Bethlem myopathy 1 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 2806 of the COL6A3 protein (p.Glu2806Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs775200499, ExAC 0.02%). This variant has not been reported in the literature in individuals with COL6A3-related disease. 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"; Align-GVGD: "Class C15"). 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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