Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000656234 | SCV000815080 | likely pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2017-09-15 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been reported to be de novo an individual affected with seizures, hypotonia and feeding difficulties (PMID: 25439098). ClinVar contains an entry for this variant (Variation ID: 156413). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 199 of the PURA protein (p.Arg199Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. |
Laboratoire de Génétique Moléculaire, |
RCV001281647 | SCV001468987 | pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001281647 | SCV001820929 | pathogenic | not provided | 2020-01-29 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29150892, 25439098) |
Whole genome laboratory; Baylor College of Medicine | RCV000144531 | SCV000189123 | pathogenic | Global developmental delay; Seizure; Delayed speech and language development; Intellectual disability; Neonatal hypotonia | 2014-09-15 | no assertion criteria provided | clinical testing | |
Gene |
RCV000656234 | SCV000778187 | not provided | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | no assertion provided | literature only |