Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003865620 | SCV004664448 | pathogenic | Kostmann syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe4*) in the HAX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HAX1 are known to be pathogenic (PMID: 17187068). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HAX1-related conditions. For these reasons, this variant has been classified as Pathogenic. |