ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.368_381del (p.Gln123fs)

dbSNP: rs1425877227
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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 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.

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