ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) (rs779028602)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734465 SCV000862610 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000734465 SCV000619763 uncertain significance not provided 2017-08-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The D909N variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is also not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D909N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, 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. However, while D909N is located in the triple helical region of the COL11A1 gene, this variant does not affect a Glycine residue in a Gly-X-Y motif in the triple helical region, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Acke et al., 2014).

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