Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413079 | SCV000491689 | uncertain significance | not specified | 2016-11-22 | criteria provided, single submitter | clinical testing | The R214X variant in the PPP2CA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R214X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R214X as a variant of uncertain significance. |
SIB Swiss Institute of Bioinformatics | RCV000853493 | SCV000996430 | likely pathogenic | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 2019-07-15 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Neurodevelopmental disorder and language delay with or without structural brain abnormalities, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PM6, PP3, PS3. |