ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) (rs143531636)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443614 SCV000536623 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The S1573L variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S1573L 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. However, this substitution occurs at a position that is not conserved across species. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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