ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.235_236del (p.Phe79fs)

dbSNP: rs2149139817
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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 RCV001380521 SCV001578604 pathogenic Kostmann syndrome 2020-08-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HAX1 are known to be pathogenic (PMID: 17187068). This variant has not been reported in the literature in individuals with HAX1-related conditions. This sequence change creates a premature translational stop signal (p.Phe79Argfs*3) in the HAX1 gene. It is expected to result in an absent or disrupted protein product.

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