Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002228072 | SCV000959003 | pathogenic | Hereditary hyperekplexia | 2018-07-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr307*) in the GLRA1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GLRA1 are known to be pathogenic (PMID: 20631190). This variant has been observed to segregate with hyperekplexia in a family (PMID: 15771552). ClinVar contains an entry for this variant (Variation ID: 38335). This variant is not present in population databases (ExAC no frequency). |
Gene |
RCV000031893 | SCV000054515 | pathologic | Hyperekplexia 1 | 2012-10-04 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |