ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.722C>T (p.Ala241Val)

gnomAD frequency: 0.00004  dbSNP: rs199991273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502926 SCV000594238 uncertain significance not specified 2016-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857086 SCV002267131 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-05-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 241 of the CSF3R protein (p.Ala241Val). This variant is present in population databases (rs199991273, gnomAD 0.02%). 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: 434842). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". 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.
PreventionGenetics, part of Exact Sciences RCV004755937 SCV005363254 uncertain significance CSF3R-related disorder 2024-08-23 no assertion criteria provided clinical testing The CSF3R c.722C>T variant is predicted to result in the amino acid substitution p.Ala241Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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