ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.272A>G (p.His91Arg)

gnomAD frequency: 0.00025  dbSNP: rs148307285
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499844 SCV000594239 uncertain significance not specified 2015-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798833 SCV000938467 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 91 of the CSF3R protein (p.His91Arg). This variant is present in population databases (rs148307285, gnomAD 0.08%). 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: 434843). 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.
Mendelics RCV000499844 SCV002516786 likely benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524172 SCV003595767 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.272A>G (p.H91R) 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 272, causing the histidine (H) at amino acid position 91 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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