ClinVar Miner

Submissions for variant NM_156039.3(CSF3R):c.429G>T (p.Gln143His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796660 SCV000936182 uncertain significance Neutropenia, severe congenital, 7, autosomal recessive 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 143 of the CSF3R protein (p.Gln143His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CSF3R-related disease. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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