Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001874394 | SCV002132258 | uncertain significance | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 2023-08-04 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1368378). This variant has not been reported in the literature in individuals affected with CSF3R-related conditions. This variant is present in population databases (rs778281149, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 711 of the CSF3R protein (p.Ser711Phe). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CSF3R protein function. 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 | RCV003348552 | SCV004074482 | uncertain significance | Inborn genetic diseases | 2023-07-19 | criteria provided, single submitter | clinical testing | The c.2132C>T (p.S711F) alteration is located in exon 17 (coding exon 15) of the CSF3R gene. This alteration results from a C to T substitution at nucleotide position 2132, causing the serine (S) at amino acid position 711 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |