ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2309G>A (p.Cys770Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003480529 SCV004227807 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV005100307 SCV005847029 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 770 of the CSF3R protein (p.Cys770Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CSF3R-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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