Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523047 | SCV000618116 | uncertain significance | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | Identified as G135R by alternate nomenclature, in a patient with cyclic neutropenia, but with limited evidence of pathogenicity (Germeshausen et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23463630) |
Invitae | RCV001796093 | SCV000963560 | uncertain significance | Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 164 of the ELANE protein (p.Gly164Arg). This variant is present in population databases (rs112990855, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ELANE-related conditions. ClinVar contains an entry for this variant (Variation ID: 449746). 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 ELANE 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. |
Genome Diagnostics Laboratory, |
RCV002263725 | SCV002543420 | likely benign | Autoinflammatory syndrome | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV003447538 | SCV004175637 | likely benign | Cyclical neutropenia | 2022-08-24 | criteria provided, single submitter | clinical testing |