ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.368T>C (p.Leu123Pro)

dbSNP: rs2145148405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001594428 SCV001499911 likely pathogenic Neutropenia, severe congenital, 1, autosomal dominant 2020-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770626 SCV004585941 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 123 of the ELANE protein (p.Leu123Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of severe congenital neutropenia (PMID: 14962902, 23463630, 33942430). This variant is also known as c.455T>C (p.Leu152Pro). ClinVar contains an entry for this variant (Variation ID: 1012306). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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