ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.62G>C (p.Gly21Ala)

dbSNP: rs2124152542
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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 RCV001876956 SCV002132225 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2022-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CSF3R-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 1370057). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 21 of the CSF3R protein (p.Gly21Ala).

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