Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001247942 | SCV001421396 | uncertain significance | Peutz-Jeghers syndrome | 2022-01-17 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 376708). This missense change has been observed in individual(s) with clinical features of Peutz-Jeghers syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 216 of the STK11 protein (p.Ser216Phe). |
| Database of Curated Mutations |
RCV000437743 | SCV000510420 | likely pathogenic | Lung adenocarcinoma | 2016-05-13 | no assertion criteria provided | literature only |