Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000623941 | SCV000741170 | pathogenic | Inborn genetic diseases | 2015-12-01 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001205064 | SCV001376300 | pathogenic | Intellectual disability, autosomal dominant 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg135*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with SYNGAP1-related conditions (PMID: 26989088, 27334371). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 430834). For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV001541131 | SCV001759089 | pathogenic | not provided | 2022-04-05 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28688840, 26989088, 27334371, 33644862) |
| Fulgent Genetics, |
RCV001205064 | SCV002809904 | pathogenic | Intellectual disability, autosomal dominant 5 | 2022-01-06 | criteria provided, single submitter | clinical testing | |
| Foundation for Research in Genetics and Endocrinology, |
RCV000495902 | SCV000579501 | likely pathogenic | Intellectual disability, autosomal recessive 5 | 2017-06-21 | no assertion criteria provided | clinical testing | The observed variant is reported neither in ExAC nor 1000 Genomes and is likely to be pathogenic by in silico analysis using Mutation Taster. Child, born to non-consangeneous parents, presented with clinical indications of day time sleepiness, increased dullness, irritability, changed behavior and emotions, decreased body strength, walking and speech developmental delay and drop attacks. Parents did not have the allele. |