ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser)

gnomAD frequency: 0.00007  dbSNP: rs763953521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809956 SCV000950142 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 453 of the CSF3R protein (p.Asn453Ser). This variant is present in population databases (rs763953521, gnomAD 0.05%). 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: 654065). 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.
CeGaT Center for Human Genetics Tuebingen RCV004808888 SCV005435127 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing CSF3R: PM2, BP4

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