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

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Total submissions: 4

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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	2019-11-26	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.
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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