ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) (rs141036911)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523042 SCV000621279 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The S355P variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 17/126428 (0.01%) alleles from individuals of European (Non-Finnish) ancestry in large population cohorts (Lek et al., 2016). This substitution occurs at a position that is not conserved across species and where proline (P) is present as the wild type in multiple species. In silico analysis predicts this variant likely does not alter the protein structure/function. Nevertheless, the S355P 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.

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