Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000454498 | SCV000494287 | likely pathogenic | Developmental and epileptic encephalopathy, 19 | 2017-02-02 | no assertion criteria provided | clinical testing | The c.789G>A (p.Met263Ile) in the GABRA1 gene is a de novo missense variant. A pathogenic variant at the same amino acid position (Met263) has been reported in the literature (PMID: 26918889) This variant was not found in the 1000 Genomes, Exome Variant Server (EVS), and Exome Aggregation Consortium (ExAC) databases. Thus, it is presumed to be rare. The genomic position is highly conserved and in silico algorithms predict the variant to be damaging. Based on the combined evidence, the (p.Met263Ile) variant is classified as a likely pathogenic variant for Epileptic encephalopathy, early infantile, 19. |