ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.58dup (p.Arg20fs)

dbSNP: rs2149139493
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002478 SCV002228754 pathogenic Kostmann syndrome 2021-05-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg20Lysfs*12) 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 variant has not been reported in the literature in individuals with HAX1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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