ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.964G>T (p.Glu322Ter)

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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 RCV005121082 SCV005740213 pathogenic Combined immunodeficiency due to STK4 deficiency 2024-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu322*) in the STK4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STK4 are known to be pathogenic (PMID: 22174160). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STK4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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