Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001242083 | SCV001415147 | uncertain significance | Kostmann syndrome | 2024-10-30 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 61 of the HAX1 protein (p.Phe61Cys). This variant is present in population databases (rs146452018, gnomAD 0.005%). This missense change has been observed in individual(s) with clinical features of HAX1-related conditions (PMID: 32581362). ClinVar contains an entry for this variant (Variation ID: 812887). 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 HAX1 protein function with a negative predictive value of 80%. 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. |
NIHR Bioresource Rare Diseases, |
RCV001003790 | SCV001162234 | likely pathogenic | Neutropenia | no assertion criteria provided | research | ||
Natera, |
RCV001242083 | SCV002085822 | uncertain significance | Kostmann syndrome | 2020-01-04 | no assertion criteria provided | clinical testing |