ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.1004G>A (p.Gly335Asp)

gnomAD frequency: 0.00003  dbSNP: rs771955007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000332737 SCV000345916 uncertain significance not provided 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001039823 SCV001203371 uncertain significance Combined immunodeficiency due to STK4 deficiency 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519354 SCV003581124 uncertain significance Inborn genetic diseases 2021-09-22 criteria provided, single submitter clinical testing The c.1004G>A (p.G335D) alteration is located in exon 9 (coding exon 9) of the STK4 gene. This alteration results from a G to A substitution at nucleotide position 1004, causing the glycine (G) at amino acid position 335 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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