Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794534 | SCV000933948 | pathogenic | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 302 of the GRHPR protein (p.Arg302Cys). This variant is present in population databases (rs180177322, gnomAD 0.02%). This missense change has been observed in individual(s) with primary hyperoxaluria type 2 (PMID: 14635115, 24116921, 31685312). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 162022). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GRHPR protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects GRHPR function (PMID: 14635115). This variant disrupts the p.Arg302 amino acid residue in GRHPR. Other variant(s) that disrupt this residue have been observed in individuals with GRHPR-related conditions (PMID: 25644115), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
MGZ Medical Genetics Center | RCV000149443 | SCV002581178 | likely pathogenic | Primary hyperoxaluria, type II | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000149443 | SCV002806312 | likely pathogenic | Primary hyperoxaluria, type II | 2021-07-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000149443 | SCV004191703 | pathogenic | Primary hyperoxaluria, type II | 2024-02-16 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV000149443 | SCV005051807 | pathogenic | Primary hyperoxaluria, type II | 2024-02-01 | criteria provided, single submitter | curation | |
OMIM | RCV000149443 | SCV000196081 | pathogenic | Primary hyperoxaluria, type II | 2014-10-01 | no assertion criteria provided | literature only | |
Clinical Biochemistry Laboratory, |
RCV000149443 | SCV000239798 | pathogenic | Primary hyperoxaluria, type II | 2014-11-27 | no assertion criteria provided | in vitro | |
Natera, |
RCV000149443 | SCV001462569 | likely pathogenic | Primary hyperoxaluria, type II | 2020-09-16 | no assertion criteria provided | clinical testing |