ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) (rs758718347)

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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 RCV000214702 SCV000271377 pathogenic Rare genetic deafness 2015-06-23 criteria provided, single submitter clinical testing The p.Arg2377X variant in GPR98 has been reported in one individual with Usher s yndrome type 2 (Besnard 2014). It has also been identified in 1/10908 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org). Although this variant has been seen in the general population, its fr equency is low enough to be consistent with a recessive carrier frequency. This nonsense variant leads to a premature termination codon at position 2377, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic for hearing loss in an autosom al recessive manner (http://www.partners.org/personalizedmedicine/LMM) based upo n predicted impact to protein.

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