ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) (rs797045113)

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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 RCV000190638 SCV000245681 pathogenic Usher syndrome, type 2A 2014-11-21 criteria provided, single submitter clinical testing The p.Gln1469X variant in USH2A has been reported in 1 compound heterozygous individual with Usher syndrome type II (Pennings 2004) and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1469, which is predicted to lead to a truncated or absent protein. Complete loss-of-function of the USH2A gene is an established disease mechanism in individuals with Usher syndrome type II. In summary, the p.Gln1469X variant in USH2A meets our criteria to be classified as pathogenic for Usher syndrome type II in an autosomal recessive manner.

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