Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000149570 | SCV000814014 | pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2018-05-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Asp207Thrfs*16) that lies downstream of this variant has been determined to be pathogenic (Invitae). This suggests that deletion of this region of the PURA protein is causative of disease. This variant has been observed to be de novo in individuals affected with early infantile epileptic encephalopathy (PMID: 25439098). This variant has also been observed in an individual affected with gross motor delay, hypotonia, and seizures (PMID: 28600779). This variant is also known as c.302_303del in the literature. ClinVar contains an entry for this variant (Variation ID: 156404). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the PURA gene (p.Ser103Hisfs*97). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 221 amino acids of the PURA protein. |
Institute of Human Genetics, |
RCV000149570 | SCV004027762 | pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2023-07-17 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS2,PS4_MOD,PM2_SUP |
Whole genome laboratory; Baylor College of Medicine | RCV000144522 | SCV000189114 | pathogenic | Global developmental delay; Delayed speech and language development; Intellectual disability; Neonatal hypotonia | 2014-09-15 | no assertion criteria provided | clinical testing | |
OMIM | RCV000149570 | SCV000196546 | pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2014-11-06 | no assertion criteria provided | literature only |