ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003123456 SCV003801012 likely pathogenic Severe congenital neutropenia 2023-01-31 criteria provided, single submitter clinical testing Variant summary: HAX1 c.601C>T (p.Gln201X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position (e.g. p.Arg126GlyfsX88, p.Val144SerfsX70, p.Pro219TrpfsX13) have been reported in affected individuals (PMIDs: 22102707, 33225392, 31321910). The variant was absent in 251354 control chromosomes. To our knowledge, no occurrence of c.601C>T in individuals affected with Severe Congenital Neutropenia and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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