Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002025308 | SCV002272891 | uncertain significance | Combined immunodeficiency due to STK4 deficiency | 2022-08-23 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STK4 protein function. ClinVar contains an entry for this variant (Variation ID: 1482952). This variant has not been reported in the literature in individuals affected with STK4-related conditions. This variant is present in population databases (rs781137671, gnomAD 0.01%). This sequence change replaces threonine with alanine at codon 133 of the STK4 protein (p.Thr133Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. |
| Ambry Genetics | RCV002579582 | SCV003757882 | uncertain significance | Inborn genetic diseases | 2022-08-01 | criteria provided, single submitter | clinical testing | The c.397A>G (p.T133A) alteration is located in exon 5 (coding exon 5) of the STK4 gene. This alteration results from a A to G substitution at nucleotide position 397, causing the threonine (T) at amino acid position 133 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |