Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000762249 | SCV000619588 | uncertain significance | not provided | 2022-09-26 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000646241 | SCV000768004 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2022-09-07 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 758 of the ADAMTS2 protein (p.Ala758Thr). This variant is present in population databases (rs146222244, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. 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: 450954). 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 threonine 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. |
Ce |
RCV000762249 | SCV000892537 | uncertain significance | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000646241 | SCV002816395 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2021-12-02 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000762249 | SCV004227168 | uncertain significance | not provided | 2023-04-05 | criteria provided, single submitter | clinical testing | BP4 |
Natera, |
RCV000646241 | SCV001458858 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-05-01 | no assertion criteria provided | clinical testing |