ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4411G>A (p.Gly1471Ser) (rs1057522949)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420003 SCV000530117 uncertain significance not provided 2016-07-28 criteria provided, single submitter clinical testing The G1471S variant in the COL11A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1471S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G1471S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, affecting the Glycine residue of the triple-helical region containing Gly-X-Y repeats. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in the same residue, G1471D, was identified in a patient with an overlapping Marshall-Stickler syndrome phenotype with less pronounced facial features, supporting the functional importance of this region of the protein (Majava et al., 2007). We interpret G1471S as a variant of uncertain significance.

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