ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11410C>T (p.Arg3804Ter)

gnomAD frequency: 0.00001  dbSNP: rs767570081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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