Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003894811 | SCV004713176 | uncertain significance | GLRA1-related condition | 2024-02-15 | criteria provided, single submitter | clinical testing | The GLRA1 c.862G>A variant is predicted to result in the amino acid substitution p.Val288Met. This variant has been reported in an individual with hyperekplexia; the variant was inherited from the individual's father, though the only phenotype noted in the father was an exaggerated startle response (del Giudice et al. 2001. PubMed ID: 11781706). This variant has not been reported in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
OMIM | RCV000017448 | SCV000037720 | pathogenic | Hyperekplexia 1 | 2001-11-01 | no assertion criteria provided | literature only | |
Gene |
RCV000017448 | SCV000054507 | pathologic | Hyperekplexia 1 | 2012-10-04 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |