Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001796392 | SCV001386230 | uncertain significance | Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant | 2019-04-18 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with ELANE-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs749675557, ExAC 0.003%). This sequence change replaces leucine with methionine at codon 169 of the ELANE protein (p.Leu169Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. |
| Ambry Genetics | RCV004978117 | SCV005578747 | uncertain significance | Inborn genetic diseases | 2024-12-06 | criteria provided, single submitter | clinical testing | The p.L169M variant (also known as c.505C>A), located in coding exon 4 of the ELANE gene, results from a C to A substitution at nucleotide position 505. The leucine at codon 169 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |