ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) (rs796065343)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070576 SCV001235833 uncertain significance Neutropenia, severe congenital, 7, autosomal recessive 2019-11-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 618 of the CSF3R protein (p.Thr618Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with hereditary CSF3R-related chronic neutrophilia. This variant has been reported in the literature in individuals affected with chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and acute lymphoblastic leukemia, however the germline nature of the variant was confirmed in only one of these individuals (PMID: 27581359, 25491280, 26875968, 28209919, 24614839, 24854193, 28219221, 27148573, 23604229, 28762112, 25932451). ClinVar contains an entry for this variant (Variation ID: 208339). This variant has been reported to affect CSF3R protein function (PMID: 24403076, 30967555, 24081659). 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.
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269671 SCV001449831 pathogenic not provided 2015-11-12 criteria provided, single submitter clinical testing
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory,Brigham and Women's Hospital RCV000190419 SCV000239865 pathogenic Early T cell progenitor acute lymphoblastic leukemia no assertion criteria provided clinical testing Activating CSF3R mutation found in ETP-ALL and chronic neutrophilic leukemia
Database of Curated Mutations (DoCM) RCV000426562 SCV000504633 likely pathogenic Chronic myelogenous leukemia, BCR-ABL1 positive 2014-12-26 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436788 SCV000504634 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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