Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413951 | SCV000490544 | pathogenic | not provided | 2015-06-02 | criteria provided, single submitter | clinical testing | The R3804X nonsense variant in the GPR98 gene has also not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The R3804X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. R3804 was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating that this is not a common benign variant in these populations. We therefore interpret R3804X to be a pathogenic variant. |
Invitae | RCV000413951 | SCV004293583 | pathogenic | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg3804*) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589). This variant is present in population databases (rs767570081, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with ADGRV1-related conditions (PMID: 28944237). ClinVar contains an entry for this variant (Variation ID: 372375). For these reasons, this variant has been classified as Pathogenic. |