Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Advanced Laboratory Medicine, |
RCV000852688 | SCV000995397 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2017-12-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002536192 | SCV003304575 | uncertain significance | RASopathy | 2023-06-15 | criteria provided, single submitter | clinical testing | 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. 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 PTPN11 protein function. ClinVar contains an entry for this variant (Variation ID: 691730). This variant has not been reported in the literature in individuals affected with PTPN11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 569 of the PTPN11 protein (p.Cys569Arg). |