ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1266G>A (p.Val422=)

dbSNP: rs746450541
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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 RCV001299667 SCV001488769 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2020-02-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This sequence change affects codon 422 of the CSF3R mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CSF3R protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CSF3R-related conditions. 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.

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