ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.23C>G (p.Ala8Gly)

dbSNP: rs201961347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001796411 SCV001417403 uncertain significance Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2019-10-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 8 of the ELANE protein (p.Ala8Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ELANE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV004978197 SCV005572226 uncertain significance Inborn genetic diseases 2024-11-18 criteria provided, single submitter clinical testing The p.A8G variant (also known as c.23C>G), located in coding exon 1 of the ELANE gene, results from a C to G substitution at nucleotide position 23. The alanine at codon 8 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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