ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704037 SCV000832970 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 2307 of the COL12A1 protein (p.Pro2307Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs758186176, ExAC 0.05%). This variant has not been reported in the literature in individuals with COL12A1-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, 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.
