ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809819 SCV000949998 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 2314 of the COL12A1 protein (p.Arg2314Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs368686970, ExAC 0.02%). 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 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.
