ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1373G>A (p.Arg458His) (rs768230986)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436072 SCV000534882 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing The R458H variant of uncertain significance in the ADAMTS2 gene has not been published as a pathogenic or benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or with any significant frequency in the Exome Aggregation Consortium, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species, and in silico analysis predicts R458H is probably damaging to the protein structure/function. Nevertheless, the R458H variant is a conservative amino acid substitution, which may not impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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