ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) (rs1554166746)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551122 SCV000656211 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2016-10-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2953 of the COL12A1 protein (p.Ala2953Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein function and splicing. It has been classified as a Variant of Uncertain Significance.

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