Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002264617 | SCV002543430 | uncertain significance | Autoinflammatory syndrome | 2020-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003774814 | SCV004604339 | uncertain significance | Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant | 2023-09-08 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1694271). This variant has not been reported in the literature in individuals affected with ELANE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 23 of the ELANE protein (p.Gly23Asp). |