ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter)

dbSNP: rs1236469336
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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 RCV001981827 SCV002213988 pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln509*) 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 present in population databases (no rsID available, gnomAD 0.0009%). 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: 1431609). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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