Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001960104 | SCV002211201 | uncertain significance | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 2024-09-11 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 48 of the CSF3R protein (p.Ile48Val). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CSF3R-related conditions. ClinVar contains an entry for this variant (Variation ID: 1433463). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CSF3R 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. |
| Ambry Genetics | RCV004042094 | SCV004849471 | uncertain significance | Inborn genetic diseases | 2023-11-03 | criteria provided, single submitter | clinical testing | The c.142A>G (p.I48V) alteration is located in exon 4 (coding exon 2) of the CSF3R gene. This alteration results from a A to G substitution at nucleotide position 142, causing the isoleucine (I) at amino acid position 48 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |