ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.286G>A (p.Glu96Lys) (rs759023976)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540674 SCV000657055 uncertain significance Bethlem myopathy 1 2017-06-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 96 of the COL6A1 protein (p.Glu96Lys). 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 (rs759023976, ExAC 0.007%) but has not been reported in the literature in individuals with a COL6A1-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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on 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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