Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624673 | SCV000742915 | pathogenic | Inborn genetic diseases | 2017-10-06 | criteria provided, single submitter | clinical testing | |
Genetics Laboratory, |
RCV001420305 | SCV001622725 | pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PVS1_very strong;PM2_supporting;PP5_supporting |
Invitae | RCV001855316 | SCV002232063 | pathogenic | Landau-Kleffner syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala33Argfs*105) in the GRIN2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GRIN2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 522057). For these reasons, this variant has been classified as Pathogenic. |