Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117187 | SCV000151351 | uncertain significance | not provided | 2013-08-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000117187 | SCV000692834 | uncertain significance | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002528213 | SCV003533810 | uncertain significance | Inborn genetic diseases | 2020-10-30 | criteria provided, single submitter | clinical testing | The c.3619T>C (p.Y1207H) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a T to C substitution at nucleotide position 3619, causing the tyrosine (Y) at amino acid position 1207 to be replaced by a histidine (H). Based on data from the Genome Aggregation Database (gnomAD) database, the GRIN2A c.3619T>C alteration was observed in 0.0008% (2/251430) of total alleles studied, with a frequency of 0.002% (2/113714) in the European (non-Finnish) subpopulation. This amino acid position is well conserved in available vertebrate species. The p.Y1207H alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |