ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1664G>A (p.Gly555Glu)

gnomAD frequency: 0.00002  dbSNP: rs763022964
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930106 SCV002131252 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2023-02-28 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1366372). This variant has not been reported in the literature in individuals affected with CSF3R-related conditions. This variant is present in population databases (rs763022964, gnomAD 0.009%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 555 of the CSF3R protein (p.Gly555Glu).

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