ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)

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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 RCV002816182 SCV003207121 likely pathogenic Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-09-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly200Argfs*18) in the ELANE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acid(s) of the ELANE protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neutropenia (internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 2004561). 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.

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