Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673330 | SCV000798518 | uncertain significance | Primary hyperoxaluria, type II | 2018-03-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531337 | SCV002955919 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GRHPR protein in which other variant(s) (p.Met322Arg) have been determined to be pathogenic (PMID: 11030416; Invitae). 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: 557220). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria type 2 (PMID: 31685312). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu320*) in the GRHPR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acid(s) of the GRHPR protein. |
Baylor Genetics | RCV000673330 | SCV004191723 | likely pathogenic | Primary hyperoxaluria, type II | 2023-04-12 | criteria provided, single submitter | clinical testing |