Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000482271 | SCV000567131 | pathogenic | not provided | 2019-08-15 | criteria provided, single submitter | clinical testing | 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 (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31949314) |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678364 | SCV000804430 | pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2017-02-26 | criteria provided, single submitter | provider interpretation | This 7 year old male with mild-moderate intellectual disability, childhood apraxia of speech, macrocephaly (>98th percentile), mild neuromotor abnormalities, and anisocoria was found to carry a de novo 1 bp deletion in the GATAD2B gene. Pathogenic variants in this gene are associated with intellectual disability, limited language development, esotropia, and dysmorphic features. This patient has been noted to have macrocephaly with mild scaphocephaly, a broad forehead, an extra hair whorl, palpebral fissures with slight downward slant, and slightly anteverted nares. This variant is absent from population databases, and it is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
| Genome- |
RCV000678364 | SCV004050297 | pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2023-04-11 | criteria provided, single submitter | clinical testing |