Submissions for variant NM_004958.4(MTOR):c.1111G>T (p.Asp371Tyr)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002996289	SCV003300016	uncertain significance	not provided	2023-02-02	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 371 of the MTOR protein (p.Asp371Tyr). 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 not present in population databases (gnomAD no frequency).
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV003126262	SCV003803824	likely benign	Autism spectrum disorder	2022-08-05	criteria provided, single submitter	clinical testing