ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.583del (p.Ala195fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596693 SCV005088843 likely pathogenic Neutropenia, severe congenital, 1, autosomal dominant 2020-09-09 criteria provided, single submitter clinical testing This variant is predicted to cause a frameshift and consequent premature termination of the protein. Due to the introduction of a premature stop codon, this aberrant transcript will likely be targeted by the nonsense-mediated mRNA decay (NMD) mechanism [PMID: 15040442]. The variant seems to be a novel variant, as it has not been previously reported in population databases or in the literature. However, other truncating variants lying downstream of the variant, has been previously reported as ‘pathogenic’ in the ClinVar database context of cyclical neutropenia.

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