ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) (rs769215629)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000602394 SCV000731681 pathogenic Rare genetic deafness 2017-07-10 criteria provided, single submitter clinical testing The p.Arg3293X variant in GPR98 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 1/109096 Europea n chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins; dbSNP rs769215629). This nonsense variant leads to a premature term ination codon at position 3293, which is predicted to lead to a truncated or abs ent protein. Loss of function of the GPR98 gene is an established disease mechan ism in autosomal recessive Usher syndrome type 2. In summary, this variant meets criteria to be classified as pathogenic for Usher syndrome type 2 in an autosom al recessive manner based on predicted impact to the protein.
Blueprint Genetics RCV001073335 SCV001238875 likely pathogenic Retinal dystrophy 2018-12-05 criteria provided, single submitter clinical testing

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