Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV001833566 | SCV002084194 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2019-10-28 | no assertion criteria provided | clinical testing |