Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666341 | SCV000790617 | likely pathogenic | Primary hyperoxaluria, type II | 2017-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000801247 | SCV000941018 | pathogenic | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly261Tyrfs*2) in the GRHPR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GRHPR-related disease. ClinVar contains an entry for this variant (Variation ID: 551312). Loss-of-function variants in GRHPR are known to be pathogenic (PMID: 25644115). For these reasons, this variant has been classified as Pathogenic. |