ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn)

dbSNP: rs1280191331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543836 SCV000656205 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2020-02-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 2825 of the COL12A1 protein (p.Thr2825Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL12A1-related disease.
Revvity Omics, Revvity RCV003144365 SCV003833313 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing

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