Submissions for variant NM_004958.4(MTOR):c.6455G>A (p.Arg2152His)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003842728	SCV004640647	uncertain significance	not provided	2023-06-05	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 MTOR protein function. This variant has not been reported in the literature in individuals affected with MTOR-related conditions. This variant is present in population databases (rs764978010, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2152 of the MTOR protein (p.Arg2152His).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV004759324	SCV005373946	uncertain significance	Isolated focal cortical dysplasia type II	2024-09-22	criteria provided, single submitter	clinical testing