ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.40C>G (p.Leu14Val)

gnomAD frequency: 0.00001  dbSNP: rs752051152
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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 RCV001817504 SCV002068408 uncertain significance not specified 2018-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003591896 SCV004278209 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2025-01-20 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 14 of the CSF3R protein (p.Leu14Val). This variant is present in population databases (rs752051152, gnomAD 0.006%). 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: 1336549). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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