ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.256C>T (p.Arg86Ter)

gnomAD frequency: 0.00002  dbSNP: rs121908165
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000004917 SCV001202665 pathogenic Kostmann syndrome 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 4654). This premature translational stop signal has been observed in individual(s) with severe congenital neutropenia (PMID: 17187068, 18055975, 18330843, 18611981, 28102861). This variant is present in population databases (rs121908165, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Arg86*) 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).
OMIM RCV000004917 SCV000025093 pathogenic Kostmann syndrome 2008-12-01 no assertion criteria provided literature only
Natera, Inc. RCV000004917 SCV001461737 pathogenic Kostmann syndrome 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723537 SCV001958289 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723537 SCV001968710 pathogenic not provided no assertion criteria provided clinical testing

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