ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) (rs777309662)

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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 RCV000612243 SCV000712269 pathogenic Rare genetic deafness 2016-06-21 criteria provided, single submitter clinical testing The p.Tyr4266X variant in GPR98 has not been previously reported in individuals with hearing loss or Usher syndrome. This variant has been identified in 3/16054 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs777309662). Although this variant has been seen in t he general population, its frequency is low enough to be consistent with a reces sive carrier frequency. This nonsense variant leads to a premature termination c odon at position 4266, which is predicted to lead to a truncated or absent prote in. Loss of function of the GPR98 gene is an established disease mechanism in au tosomal recessive Usher syndrome. In summary, this variant meets our criteria to be classified as pathogenic for autosomal recessive Usher syndrome based upon t he predicted impact to the protein.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504819 SCV000599107 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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