ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp)

dbSNP: rs1768363255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235445 SCV001408131 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2019-08-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with tryptophan at codon 2774 of the COL12A1 protein (p.Gly2774Trp). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and tryptophan. 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: "Probably Damaging"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.

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