ClinVar

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg297 amino acid residue in STK11. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10408777, 16287113, 22543132, 24652667, 26607058, 28185117). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 182912). This variant is also known as 891C>T, A297S. This missense change has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 10874301). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 297 of the STK11 protein (p.Arg297Ser).