Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001329980 | SCV001521559 | uncertain significance | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2020-01-23 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV003120553 | SCV003785211 | uncertain significance | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1028830). 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). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 415 of the MTOR protein (p.Asp415Gly). 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. 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. |