Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000260469 | SCV000329755 | pathogenic | not provided | 2015-12-23 | criteria provided, single submitter | clinical testing | The R681X nonsense variant in the GRIN2A gene has been reported previously in an individual with Landau-Kleffner syndrome; it was also identified in other family members with learning disabilities and in an unaffected relative (Lemke et al., 2013). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret R681X as a pathogenic variant. |
Institute of Human Genetics, |
RCV000074393 | SCV002026193 | likely pathogenic | Landau-Kleffner syndrome | 2019-01-01 | criteria provided, single submitter | research | |
Ce |
RCV000260469 | SCV002063489 | pathogenic | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000074393 | SCV000106003 | pathogenic | Landau-Kleffner syndrome | 2013-09-01 | no assertion criteria provided | literature only |