ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) (rs747622607)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598600 SCV000709938 pathogenic not provided 2018-02-09 criteria provided, single submitter clinical testing The R5688X nonsense variant in the GPR98 gene has been reported previously in association with Usher syndrome type 2 (Besnard et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, we consider the variant to be pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763551 SCV000894368 pathogenic Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing

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