ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)

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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 RCV003788031 SCV004604894 likely pathogenic Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-09-12 criteria provided, single submitter clinical testing 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 expected to disrupt ELANE protein function. This variant has not been reported in the literature in individuals affected with ELANE-related conditions. This variant is present in population databases (rs201139487, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 203 of the ELANE protein (p.Gly203Ser). This variant disrupts the p.Gly203 amino acid residue in ELANE. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19036076, 22148006, 30273710, 30635825). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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