Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001364783 | SCV001560959 | uncertain significance | Kostmann syndrome | 2022-06-23 | criteria provided, single submitter | clinical testing | 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"). ClinVar contains an entry for this variant (Variation ID: 1056018). This variant has not been reported in the literature in individuals affected with HAX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 234 of the HAX1 protein (p.Gly234Ser). |
| Ambry Genetics | RCV004980381 | SCV005596165 | uncertain significance | Inborn genetic diseases | 2024-11-26 | criteria provided, single submitter | clinical testing | The p.G234S variant (also known as c.700G>A), located in coding exon 6 of the HAX1 gene, results from a G to A substitution at nucleotide position 700. The glycine at codon 234 is replaced by serine, an amino acid with 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. |