Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002017479 | SCV002291967 | uncertain significance | Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 2024-04-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 331 of the STAT1 protein (p.Arg331Lys). This variant is present in population databases (rs533671897, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with STAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1501454). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
| Revvity Omics, |
RCV003138031 | SCV003825856 | uncertain significance | not provided | 2020-07-25 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004970753 | SCV005508294 | uncertain significance | Inborn genetic diseases | 2024-09-08 | criteria provided, single submitter | clinical testing | The c.992G>A (p.R331K) alteration is located in exon 11 (coding exon 9) of the STAT1 gene. This alteration results from a G to A substitution at nucleotide position 992, causing the arginine (R) at amino acid position 331 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |