ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1003del (p.Thr335fs)

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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 RCV002903403 SCV003249000 pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr335Leufs*98) in the CSF3R gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CSF3R are known to be pathogenic (PMID: 24753537, 26324699). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CSF3R-related conditions. ClinVar contains an entry for this variant (Variation ID: 2041994). For these reasons, this variant has been classified as Pathogenic.

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