ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.693G>T (p.Met231Ile)

dbSNP: rs1468169521
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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 RCV001232163 SCV001404709 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2019-09-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CSF3R-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 231 of the CSF3R protein (p.Met231Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.

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