Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001957928 | SCV002216182 | pathogenic | Kostmann syndrome | 2021-07-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln123Leufs*4) 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 (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of congenital neutropenia (PMID: 18337561). For these reasons, this variant has been classified as Pathogenic. |