ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1795C>A (p.His599Asn)

gnomAD frequency: 0.00001  dbSNP: rs750968883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820451 SCV002071353 uncertain significance not specified 2019-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869726 SCV002277642 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-02-14 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 599 of the CSF3R protein (p.His599Asn). This variant is present in population databases (rs750968883, gnomAD 0.005%). 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: 1337437). 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 expected to disrupt CSF3R protein function with a positive 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.

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