ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11410C>T (p.Arg3804Ter) (rs767570081)

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Total submissions: 1
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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.

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