Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV000677386 | SCV001468853 | likely pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 2019-06-08 | criteria provided, single submitter | clinical testing | The c.379C>T (p.Gln127Ter) variant identified in the IRF2BPL gene leads to the premature termination of the protein at amino acid 127/797 (coding exon 1/1). This variant is absent from gnomAD and ExAC, suggesting it is not a common benign variant in the populations represented in these databases. It is reported as Pathogenic in ClinVar (VarID: 559609), and has been previously identified in a 16y female with global developmental delay, hypotonia, seizures, gait abnormalities with wheelchair dependence, and regession of gross and fine motor and speech abilities beginning at approximately 12 years of age [PMID: 30057031]. Given the deleterious nature of the c.379C>T (p.Gln127Ter) variant, its absence in population databases, and its previous report in a similarly affected individual, it is reported here as Likely Pathogenic. |
OMIM | RCV000677386 | SCV000803649 | pathogenic | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 2018-12-20 | no assertion criteria provided | literature only |