ClinVar Miner

Submissions for variant NM_006118.3(HAX1):c.430dup (p.Val144fs) (rs770288337)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702051 SCV000830880 pathogenic Severe congenital neutropenia 3, autosomal recessive 2018-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val144Glyfs*5) in the HAX1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported to be homozygous or compound heterozygous in several families and individuals affected with severe congenital neutropenia or Kostmann syndrome (PMID: 18337561, 22102707, 24482108, 20065084, 20220065). Loss-of-function variants in HAX1 are known to be pathogenic (PMID: 17187068). For these reasons, this variant has been classified as Pathogenic.

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