ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.2234G>A (p.Arg745Gln) (rs147927477)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766588 SCV000576635 uncertain significance not provided 2018-07-20 criteria provided, single submitter clinical testing The R852Q variant of uncertain significance in the COL11A2 gene has not been published as pathogenic or been reported as benign to our knowledge. The R852Q 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 2/3 in silico algorithms predict this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the R852Q variant. Furthermore, the Exome Aggregation Consortium (ExAC) reports the R852Q variant was observed in 14/66,652 alleles from individuals of European (Non-Finnish) ancestry (Lek et al., 2016).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000489315 SCV000711005 uncertain significance not specified 2017-07-27 criteria provided, single submitter clinical testing The p.Arg852Gln variant in COL11A2 has not been previously reported in individua ls with hearing loss, but has been identified in 46/ 126614 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs147927477). Although this variant has been seen in the general population , its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Arg852Gln variant is un certain.
Center for Human Genetics, Inc RCV000659339 SCV000781150 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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