ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.805C>T (p.Arg269Cys)

dbSNP: rs2124123972
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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 RCV002000929 SCV002269414 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2021-04-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CSF3R-related conditions. This sequence change replaces arginine with cysteine at codon 269 of the CSF3R protein (p.Arg269Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV002579660 SCV003586494 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.805C>T (p.R269C) alteration is located in exon 7 (coding exon 5) of the CSF3R gene. This alteration results from a C to T substitution at nucleotide position 805, causing the arginine (R) at amino acid position 269 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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