ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2293G>A (p.Gly765Arg)

dbSNP: rs2124096083
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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 RCV001883613 SCV002145691 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2021-09-01 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with CSF3R-related conditions. This sequence change replaces glycine with arginine at codon 765 of the CSF3R protein (p.Gly765Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine.
Ambry Genetics RCV002552788 SCV003575680 uncertain significance Inborn genetic diseases 2021-08-28 criteria provided, single submitter clinical testing The c.2293G>A (p.G765R) alteration is located in exon 17 (coding exon 15) of the CSF3R gene. This alteration results from a G to A substitution at nucleotide position 2293, causing the glycine (G) at amino acid position 765 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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