ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8644C>T (p.Pro2882Ser) (rs1553544899)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530297 SCV000657435 uncertain significance Bethlem myopathy 1 2017-03-03 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 2882 of the COL6A3 protein (p.Pro2882Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
