ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.3790G>A (p.Val1264Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823856 SCV000964727 uncertain significance Bethlem myopathy 1 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1264 of the COL6A3 protein (p.Val1264Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs541703064, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL6A3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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