Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001300754 | SCV001489903 | uncertain significance | Intellectual disability, autosomal dominant 8 | 2020-08-26 | criteria provided, single submitter | clinical testing | This variant, c.41_43del, results in the deletion of 1 amino acid(s) of the GRIN1 protein (p.Ser14del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs778242525, ExAC 0.004%). This variant has not been reported in the literature in individuals with GRIN1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |