ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.367-8C>A

dbSNP: rs200752339
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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 RCV001896973 SCV002177030 pathogenic Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2022-02-10 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the ELANE gene. It does not directly change the encoded amino acid sequence of the ELANE protein. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is also known as IVS3-8sa, C4477A. This variant has been observed in individual(s) with severe congenital neutropenia (PMID: 21425445, 30171085). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).

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