Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000508432 | SCV000603440 | pathogenic | not specified | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001794457 | SCV000823044 | pathogenic | Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant | 2023-06-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on ELANE function (PMID: 16551967, 26567890). 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. ClinVar contains an entry for this variant (Variation ID: 16745). This variant is also known as p.Ser97Leu. This missense change has been observed in individuals with cyclic neutropenia and severe congenital neutropenia (PMID: 11001877, 14962902, 16079102, 16737875, 18611981, 20582973, 22758217, 23463630). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 126 of the ELANE protein (p.Ser126Leu). |
Mendelics | RCV000990116 | SCV001140921 | pathogenic | Cyclical neutropenia | 2019-05-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018229 | SCV000038508 | pathogenic | Neutropenia, severe congenital, 1, autosomal dominant | 2008-01-01 | no assertion criteria provided | literature only | |
Department Of Genetics, |
RCV000018229 | SCV000891498 | uncertain significance | Neutropenia, severe congenital, 1, autosomal dominant | 2017-12-30 | no assertion criteria provided | curation | |
Gene |
RCV000990116 | SCV002769685 | not provided | Cyclical neutropenia | no assertion provided | literature only |