ClinVar Miner

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

dbSNP: rs768230986
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436072 SCV000534882 uncertain significance not provided 2021-01-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001833566 SCV003249877 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 458 of the ADAMTS2 protein (p.Arg458His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs768230986, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 391746). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001833566 SCV002084194 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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