Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706023 | SCV000835050 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glutamic acid at codon 561 of the ADAMTS2 protein (p.Asp561Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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, |
RCV000706023 | SCV002081956 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-02-26 | no assertion criteria provided | clinical testing |