ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2470G>A (p.Asp824Asn) (rs1064796668)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480899 SCV000573614 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The D824N variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D824N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position where amino acids with similar properties to aspartic acid are tolerated across species.

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