ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.225-6C>A

dbSNP: rs777599059
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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 RCV001796459 SCV001555762 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2020-05-30 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with severe congenital neutropenia (PMID: 31321910). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This sequence change falls in intron 2 of the ELANE gene. It does not directly change the encoded amino acid sequence of the ELANE protein. This variant is not present in population databases (ExAC no frequency).

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