ClinVar Miner

Submissions for variant NM_156039.3(CSF3R):c.799del (p.Glu267fs) (rs759302795)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653388 SCV000775267 pathogenic Neutropenia, severe congenital, 7, autosomal recessive 2017-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu267Serfs*61) in the CSF3R gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs759302795, ExAC 0.01%). This variant has not been reported in the literature in individuals with CSF3R-related disease. Loss-of-function variants in CSF3R are known to be pathogenic (PMID: 24753537, 26324699). For these reasons, this variant has been classified as Pathogenic.

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