ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.773G>A (p.Arg258Gln)

gnomAD frequency: 0.00003  dbSNP: rs202234596
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002037192 SCV002111323 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2022-11-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs202234596, gnomAD 0.01%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ELANE protein function. ClinVar contains an entry for this variant (Variation ID: 1345307). This variant has not been reported in the literature in individuals affected with ELANE-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 258 of the ELANE protein (p.Arg258Gln).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264397 SCV002543436 likely benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003976237 SCV004787659 uncertain significance ELANE-related disorder 2023-10-28 criteria provided, single submitter clinical testing The ELANE c.773G>A variant is predicted to result in the amino acid substitution p.Arg258Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-856133-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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