Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001044841 | SCV001208661 | uncertain significance | Landau-Kleffner syndrome | 2019-11-27 | criteria provided, single submitter | clinical testing | 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with GRIN2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 9 of the GRIN2A gene. It does not directly change the encoded amino acid sequence of the GRIN2A protein, but it affects a nucleotide within the consensus splice site of the intron. |
| Ambry Genetics | RCV003243422 | SCV003977714 | uncertain significance | Inborn genetic diseases | 2023-05-18 | criteria provided, single submitter | clinical testing | The c.1777+6G>C intronic alteration consists of a G to C substitution 6 nucleotides after exon 9 (coding exon 7) in the GRIN2A gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |