ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg)

dbSNP: rs1260669878
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700376 SCV000829128 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-04-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1310 of the COL12A1 protein (p.Gly1310Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. 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 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.

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