Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000254832 | SCV000322240 | pathogenic | not provided | 2023-01-23 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect: loss of protein function (Berryer et al., 2013; Zeng et al., 2017); Not observed 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: 30541864, 23161826, 28576131, 26989088, 28524815, 33308442, 33639450) |
Ambry Genetics | RCV000623832 | SCV000742372 | likely pathogenic | Inborn genetic diseases | 2017-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000034348 | SCV000767485 | pathogenic | Intellectual disability, autosomal dominant 5 | 2022-08-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 41462). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SYNGAP1 function (PMID: 23161826). 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 SYNGAP1 protein function. This missense change has been observed in individual(s) with intellectual disability and epilepsy (PMID: 23161826, 26989088; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 562 of the SYNGAP1 protein (p.Pro562Leu). |
Center for Human Genetics, |
RCV000034348 | SCV000782329 | uncertain significance | Intellectual disability, autosomal dominant 5 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV002273941 | SCV002558898 | pathogenic | SYNGAP1-related developmental and epileptic encephalopathy | criteria provided, single submitter | clinical testing | ||
Ce |
RCV000254832 | SCV004042257 | pathogenic | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | SYNGAP1: PS2, PM2, PS4:Moderate, PP2, PP3 |
OMIM | RCV000034348 | SCV000058329 | pathogenic | Intellectual disability, autosomal dominant 5 | 2013-02-01 | no assertion criteria provided | literature only | |
Centre de Biologie Pathologie Génétique, |
RCV000034348 | SCV001427875 | likely pathogenic | Intellectual disability, autosomal dominant 5 | 2019-01-01 | no assertion criteria provided | clinical testing | |
Genome |
RCV001265525 | SCV001443669 | pathogenic | Complex neurodevelopmental disorder | 2018-06-01 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-06-01 and interpreted as Pathogenic. Variant was initially reported on 2017-02-13 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |
Rare Disease Center, |
RCV003156067 | SCV003845347 | likely pathogenic | Autosomal dominant epilepsy | 2023-03-23 | no assertion criteria provided | research |