Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857292 | SCV002289291 | pathogenic | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GRM6 protein in which other variant(s) (p.Gly756Asp) have been determined to be pathogenic (PMID: 22008250, 24715752, 26628857). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 441099). This premature translational stop signal has been observed in individual(s) with night blindness (Invitae). This variant is present in population databases (rs770025079, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ala738Glyfs*81) in the GRM6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 140 amino acid(s) of the GRM6 protein. |
Genome |
RCV000509084 | SCV000607204 | not provided | Congenital stationary night blindness | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |