ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser)

dbSNP: rs200487396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695047 SCV000823523 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-02-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 1965 of the COL12A1 protein (p.Arg1965Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Revvity Omics, Revvity RCV003144527 SCV003833342 uncertain significance not provided 2021-03-23 criteria provided, single submitter clinical testing

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