Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001340355 | SCV001534161 | uncertain significance | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 2020-05-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CSF3R-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs776535279, ExAC 0.02%). This sequence change replaces proline with leucine at codon 706 of the CSF3R protein (p.Pro706Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. |
| Ambry Genetics | RCV004035933 | SCV004849475 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.2117C>T (p.P706L) 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 2117, causing the proline (P) at amino acid position 706 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |