ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.602del (p.Asp201fs)

dbSNP: rs2035673569
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001796439 SCV001507547 likely pathogenic Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp201Alafs*11) in the ELANE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acid(s) of the ELANE protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ELANE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017714). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in a region of the ELANE protein where a significant number of ELANE nonsense and -1/+2 frameshift mutations have been reported in association with autosomal dominant ELANE-related neutropenia (PMID: 33513358, 23463630, 34340247). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.