ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3625G>A (p.Gly1209Arg) (rs769813298)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492950 SCV000582518 uncertain significance not provided 2017-05-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ADAMTS2 gene. The G1209R variant has not been published as pathogenic or been reported as benign to our knowledge. G1209R 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 G1209R 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, where R1209 is the wild-type amino acid residue in multiple species. In silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with EDS (Stenson et al., 2014).

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