Submissions for variant NM_000455.5(STK11):c.914A>G (p.Gln305Arg)

dbSNP: rs2080788003

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001992270	SCV002285445	uncertain significance	Peutz-Jeghers syndrome	2021-06-07	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 not expected to disrupt STK11 protein function. This variant has not been reported in the literature in individuals with STK11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 305 of the STK11 protein (p.Gln305Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003321892	SCV004026956	uncertain significance	not specified	2024-02-06	criteria provided, single submitter	clinical testing