Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000477576 | SCV000552812 | pathogenic | Intellectual disability, autosomal dominant 5 | 2023-08-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg687*) in the SYNGAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYNGAP1 are known to be pathogenic (PMID: 23161826, 23708187, 26989088). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of SYNGAP1-related conditions (PMID: 30440138, 30541864). ClinVar contains an entry for this variant (Variation ID: 411584). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000498682 | SCV000590249 | pathogenic | not provided | 2017-06-05 | criteria provided, single submitter | clinical testing | The R687X variant in the SYNGAP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R687X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R687X as a pathogenic variant. |
Centre for Mendelian Genomics, |
RCV000626901 | SCV000747604 | likely pathogenic | Motor delay; Atypical behavior; Aggressive behavior; Ptosis; Pointed chin; Abnormal sternum morphology; Delayed speech and language development; Downslanted palpebral fissures; Triangular face; Wide nasal bridge; High forehead; Bulbous tips of toes; Infantile muscular hypotonia | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000477576 | SCV000893716 | pathogenic | Intellectual disability, autosomal dominant 5 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000477576 | SCV001934332 | pathogenic | Intellectual disability, autosomal dominant 5 | 2020-11-19 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV003128403 | SCV003804855 | pathogenic | See cases | 2022-10-10 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PM2,PP5 |
Molecular Genetics Lab, |
RCV000477576 | SCV004697776 | pathogenic | Intellectual disability, autosomal dominant 5 | criteria provided, single submitter | clinical testing | ||
Center for Genomic Medicine, |
RCV000477576 | SCV004809463 | likely pathogenic | Intellectual disability, autosomal dominant 5 | 2024-04-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000498682 | SCV001809152 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000498682 | SCV001957549 | pathogenic | not provided | no assertion criteria provided | clinical testing |