ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.944C>G (p.Pro315Arg)

gnomAD frequency: 0.00001  dbSNP: rs747130357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369315 SCV001565749 uncertain significance not provided 2020-09-25 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 315 of the MTOR protein (p.Pro315Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. 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 with MTOR-related conditions. This variant is not present in population databases (ExAC no frequency).

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