ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.165C>A (p.Cys55Ter)

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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 RCV003806488 SCV004591349 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-04-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys55*) in the ELANE gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ELANE cause disease. This variant has not been reported in the literature in individuals affected with ELANE-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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