Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000815092 | SCV000955535 | uncertain significance | Kostmann syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 41 of the HAX1 protein (p.Gly41Val). This variant is present in population databases (rs369987963, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HAX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 658294). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Gene |
RCV002269318 | SCV002552837 | uncertain significance | not provided | 2022-01-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV000815092 | SCV002783476 | uncertain significance | Kostmann syndrome | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000815092 | SCV002085816 | uncertain significance | Kostmann syndrome | 2021-02-17 | no assertion criteria provided | clinical testing |