ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.10G>A (p.Gly4Ser)

gnomAD frequency: 0.00001  dbSNP: rs773460580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001796187 SCV000819112 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 4 of the ELANE protein (p.Gly4Ser). This variant is present in population databases (rs773460580, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ELANE-related conditions. ClinVar contains an entry for this variant (Variation ID: 570477). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ELANE protein function with a negative predictive value of 95%. 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.
Baylor Genetics RCV001332065 SCV001524266 uncertain significance Neutropenia, severe congenital, 1, autosomal dominant 2019-09-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001796187 SCV005648857 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2024-03-20 criteria provided, single submitter clinical testing

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