Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986339 | SCV001135314 | likely benign | Neutropenia, severe congenital, 2, autosomal dominant | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000986339 | SCV004280969 | uncertain significance | Neutropenia, severe congenital, 2, autosomal dominant | 2023-05-30 | 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 GFI1 protein function. ClinVar contains an entry for this variant (Variation ID: 8740). This missense change has been observed in individual(s) with neutropenia (PMID: 12778173). This variant is present in population databases (rs28936382, gnomAD 0.004%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 403 of the GFI1 protein (p.Lys403Arg). |
OMIM | RCV000009279 | SCV000029497 | pathogenic | Nonimmune chronic idiopathic neutropenia of adults | 2003-07-01 | no assertion criteria provided | literature only |