ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801761 SCV000941555 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 388 of the COL12A1 protein (p.Thr388Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL12A1-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: "Benign"; 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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