ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1961T>C (p.Leu654Pro) (rs1131691449)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494648 SCV000582150 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing The L654P variant in the COL11A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L654P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L654P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L654P as a variant of uncertain significance.

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