Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597894 | SCV000703470 | uncertain significance | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Cirak Lab, |
RCV000855499 | SCV000996629 | likely pathogenic | Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita | 2019-06-28 | criteria provided, single submitter | research | |
Invitae | RCV000597894 | SCV001222666 | uncertain significance | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 270 of the ROR2 protein (p.Ile270Val). This variant is present in population databases (rs145631389, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of Robinow syndrome (PMID: 31680123). ClinVar contains an entry for this variant (Variation ID: 498455). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ROR2 protein function with a negative predictive value of 80%. 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. |
Gene |
RCV000597894 | SCV003933023 | uncertain significance | not provided | 2022-12-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 31680123) |