Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000006766 | SCV000807318 | pathogenic | Intellectual disability, autosomal dominant 5 | 2017-09-01 | criteria provided, single submitter | clinical testing | This frameshift variant has been previously reported as disease-causing and was found once in our laboratory de novo in a 4-year-old female with global delays, autism, microcephaly, ataxic gait, hyperflexibility, nystagmus. |
| Gene |
RCV001588803 | SCV001815385 | pathogenic | not provided | 2022-06-06 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect on the synaptic plasticity process (Araki et al., 2015); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23161826, 21237447, 21376300, 19196676, 25852444, 31395010, 25326635, 25569349) |
| Labcorp Genetics |
RCV000006766 | SCV002243758 | pathogenic | Intellectual disability, autosomal dominant 5 | 2024-06-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu813Argfs*23) 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: 19196676, 31395010). This variant is also known as L813RfsX22. ClinVar contains an entry for this variant (Variation ID: 6394). For these reasons, this variant has been classified as Pathogenic. |
| 3billion, |
RCV000006766 | SCV003841659 | pathogenic | Intellectual disability, autosomal dominant 5 | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000006394 / PMID: 19196676). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
| OMIM | RCV000006766 | SCV000026958 | pathogenic | Intellectual disability, autosomal dominant 5 | 2009-02-05 | no assertion criteria provided | literature only |