Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000209915 | SCV000265516 | pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2014-07-10 | criteria provided, single submitter | research | |
Gene |
RCV000523811 | SCV000619645 | pathogenic | not provided | 2023-08-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27830187, 32494756, 28554332, 35982159, 37035737) |
Ce |
RCV000523811 | SCV001334591 | likely pathogenic | not provided | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000209915 | SCV001429272 | pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2019-08-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000523811 | SCV002142302 | pathogenic | not provided | 2021-05-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt MTOR protein function. This variant has been observed in individual(s) with clinical features of Smith-Kingsmore syndrome (PMID: 27830187). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 224083). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with cysteine at codon 1888 of the MTOR protein (p.Phe1888Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. |
Equipe Genetique des Anomalies du Developpement, |
RCV000209915 | SCV003843223 | pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2021-05-25 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000209915 | SCV000564177 | pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2020-09-16 | no assertion criteria provided | literature only |