Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001224092 | SCV001396270 | uncertain significance | Cystic fibrosis | 2022-09-07 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1188 of the CFTR protein (p.Ser1188Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 828070). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
| Ambry Genetics | RCV001224092 | SCV002616652 | uncertain significance | Cystic fibrosis | 2023-05-22 | criteria provided, single submitter | clinical testing | The p.S1188L variant (also known as c.3563C>T), located in coding exon 22 of the CFTR gene, results from a C to T substitution at nucleotide position 3563. The serine at codon 1188 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV001027916 | SCV001190639 | uncertain significance | CFTR-related disorders | 2019-05-20 | no assertion criteria provided | clinical testing |