Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004396051 | SCV004879887 | uncertain significance | not specified | 2022-04-08 | criteria provided, single submitter | clinical testing | The c.1840G>A (p.D614N) alteration is located in exon 8 (coding exon 8) of the GRM4 gene. This alteration results from a G to A substitution at nucleotide position 1840, causing the aspartic acid (D) at amino acid position 614 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |