ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) (rs200698641)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544804 SCV000656142 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2017-06-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 960 of the COL12A1 protein (p.Thr960Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200698641, ExAC 0.06%). This variant has not been reported in the literature in individuals with a 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, this variant has uncertain impact on COL12A1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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