Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002050706 | SCV002109035 | uncertain significance | Peutz-Jeghers syndrome | 2023-08-14 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1347895). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 307 of the STK11 protein (p.Ser307Arg). |
| Ambry Genetics | RCV002370353 | SCV002687905 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-29 | criteria provided, single submitter | clinical testing | The p.S307R variant (also known as c.921C>G) is located in coding exon 8 of the STK11 gene. The serine at codon 307 is replaced by arginine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 8. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |