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	2019-08-21	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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