ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) (rs727504777)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156094 SCV000205807 pathogenic Rare genetic deafness 2013-10-11 criteria provided, single submitter clinical testing The Arg4211X variant in GPR98 has not been reported in individuals with hearing loss or in large population studies. This nonsense variant leads to a premature termination codon at position 4211, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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