Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622637 | SCV000741851 | likely pathogenic | Inborn genetic diseases | 2016-11-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201221 | SCV002248767 | likely pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2021-12-02 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 192334). This missense change has been observed in individual(s) with PURA syndrome (PMID: 27148565). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 188 of the PURA protein (p.Ile188Thr). |
Mendelics | RCV000201221 | SCV002518952 | pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000201221 | SCV004023382 | pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2023-08-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000201221 | SCV000255945 | pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2021-08-17 | no assertion criteria provided | literature only |