ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) (rs370988085)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445185 SCV000536251 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing The A1290S variant in the COL11A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A1290S variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. The A1290S variant is a non-conservative amino acid substitution, which occurs at a non-Glycine residue within the collagen triple-helical region containing Gly-X-Y repeats. Substitutions of Glycine residues in these Gly-X-Y motifs within the triple helical regions of the type XI collagen protein represent the vast majority of pathogenic missense variants associated with a COL11A1-related disorder (Stenson et al., 2014). This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A1290S as a variant of uncertain significance.

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