ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.796C>A (p.Pro266Thr)

gnomAD frequency: 0.00002  dbSNP: rs143845252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337860 SCV001531479 uncertain significance Combined immunodeficiency due to STK4 deficiency 2021-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004679084 SCV005165284 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.796C>A (p.P266T) alteration is located in exon 7 (coding exon 7) of the STK4 gene. This alteration results from a C to A substitution at nucleotide position 796, causing the proline (P) at amino acid position 266 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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