Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001871398 | SCV002150884 | uncertain significance | not provided | 2021-10-11 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces phenylalanine with serine at codon 292 of the IL6ST protein (p.Phe292Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with IL6ST-related conditions. |
| Ambry Genetics | RCV004041368 | SCV004886553 | uncertain significance | not specified | 2023-12-17 | criteria provided, single submitter | clinical testing | The c.875T>C (p.F292S) alteration is located in exon 8 (coding exon 6) of the IL6ST gene. This alteration results from a T to C substitution at nucleotide position 875, causing the phenylalanine (F) at amino acid position 292 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |