ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.289_300dup (p.Ala100_Val101insGlnValPheAla)

dbSNP: rs2145145135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University RCV002260543 SCV002540212 pathogenic Neutropenia, severe congenital, 1, autosomal dominant criteria provided, single submitter clinical testing The heterozygous 12 base pair (bp) inframe insertion (c.289_300dupCAGGTGTTCGCC; p.Q97_A100dup) was identified in a patient with congenital neutropaenia (Ittiwut et. al. 2020). This variant was absent in the gnomAD or Human Gene Mutation Database (HGMD) database and predicted to have deleterious impact on the biological function of an ELA2 protein by PROVEAN.

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