ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2659G>A (p.Glu887Lys) (rs886043283)

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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 RCV000330968 SCV000339281 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
Invitae RCV000800722 SCV000940452 uncertain significance Bethlem myopathy 1 2019-01-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 887 of the COL6A2 protein (p.Glu887Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 286027). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but 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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