ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) (rs199802059)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198241 SCV000249980 uncertain significance not provided 2019-01-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL5A2 gene. The D1129N variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 9/65508 (0.01%) alleles from individuals of European (Non-Finnish) ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). The D1129N 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 in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the D1129N variant does not affect a Glycine residue in a Gly-X-Y motif in the triple helical region of the COL5A2 gene, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Symoens et al., 2012).
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659485 SCV000781300 uncertain significance Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000688546 SCV000816163 likely benign Ehlers-Danlos syndrome, classic type 2019-12-13 criteria provided, single submitter clinical testing

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