Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000815755 | SCV000956224 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with valine at codon 57 of the ADAMTS2 protein (p.Ile57Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs768252348, ExAC 0.04%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine 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. |
| Ambry Genetics | RCV003279099 | SCV003959129 | uncertain significance | Inborn genetic diseases | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.169A>G (p.I57V) alteration is located in exon 2 (coding exon 2) of the ADAMTS2 gene. This alteration results from a A to G substitution at nucleotide position 169, causing the isoleucine (I) at amino acid position 57 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV000815755 | SCV001463005 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-04-20 | no assertion criteria provided | clinical testing |