ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) (rs527236133)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132687 SCV000172640 probable-pathogenic Usher syndrome, type 2C no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000844604 SCV000731305 pathogenic Rare genetic deafness 2016-11-23 criteria provided, single submitter clinical testing The p.Arg2336X variant in GPR98 has been previously reported in 1 Chinese indivi dual with Usher syndrome who was compound heterozygous for a second truncating v ariant in GPR98 (Jiang 2015). This variant has not been identified in large pop ulation studies. This nonsense variant leads to a premature termination codon at position 2336, which is predicted to lead to a truncated or absent protein. Los s of GPR98 function is an established disease mechanism in autosomal recessive U sher syndrome. In summary, this variant meets criteria to be classified as patho genic for autosomal recessive Usher syndrome based upon the predicted impact to the protein.

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