Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001244336 | SCV001417548 | uncertain significance | Kostmann syndrome | 2019-10-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with aspartic acid at codon 42 of the HAX1 protein (p.Gly42Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HAX1-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 (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. |
Natera, |
RCV001244336 | SCV002085817 | uncertain significance | Kostmann syndrome | 2021-09-15 | no assertion criteria provided | clinical testing |