Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689330 | SCV000816975 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 1203 of the ADAMTS2 protein (p.Arg1203Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs772059202, ExAC 0.001%). 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: 568847). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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, |
RCV000689330 | SCV002081875 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2019-10-28 | no assertion criteria provided | clinical testing |