Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001063245 | SCV001228082 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2022-04-04 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1164 of the ADAMTS2 protein (p.Pro1164Ser). This variant is present in population databases (rs776115866, gnomAD 0.006%). 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: 857543). 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 C0"). 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, |
RCV001063245 | SCV002081884 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-02-21 | no assertion criteria provided | clinical testing |