ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter)

dbSNP: rs876657694
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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, Mass General Brigham Personalized Medicine RCV000217974 SCV000271375 pathogenic Rare genetic deafness 2015-07-20 criteria provided, single submitter clinical testing The p.Trp4962X variant in GPR98 has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies .This nonsense variant leads to a premature termination codon at position 4962, which is predicted to lead to a truncated or absent protein. Loss of function of the GPR98 gene is an established disease mechanism in autosomal recessive Usher syndrome. In summary, this variant meets our criteria to be classified as patho genic for Usher syndrome in an autosomal recessive manner based on the predicted impact of the variant.

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