ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2494_2495delinsAA (p.Ala832Lys)

dbSNP: rs2124095140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963775 SCV002254464 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2020-11-11 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with CSF3R-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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. This sequence change replaces alanine with lysine at codon 832 of the CSF3R protein (p.Ala832Lys). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and lysine.

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