ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2470G>A (p.Val824Met) (rs758758266)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525313 SCV000657151 uncertain significance Bethlem myopathy 1 2016-10-12 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 824 of the COL6A2 protein (p.Val824Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs758758266, ExAC 0.05%) but has not been reported in the literature in individuals with a COL6A2-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"; PolyPhen-2: "Probably 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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