Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001947536 | SCV002127519 | uncertain significance | Nephronophthisis | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 377 of the GLIS2 protein (p.Gly377Ser). This variant is present in population databases (rs758967813, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GLIS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1367895). 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: "Not Available"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
| Fulgent Genetics, |
RCV002482554 | SCV002775739 | uncertain significance | Nephronophthisis 7 | 2022-05-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004917730 | SCV005591704 | uncertain significance | not specified | 2024-09-03 | criteria provided, single submitter | clinical testing | The c.1129G>A (p.G377S) alteration is located in exon 6 (coding exon 6) of the GLIS2 gene. This alteration results from a G to A substitution at nucleotide position 1129, causing the glycine (G) at amino acid position 377 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |