ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) (rs111033386)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041880 SCV000065576 pathogenic Rare genetic deafness 2011-11-30 criteria provided, single submitter clinical testing The Trp2075X variant in USH2A has not been reported in the literature, but has b een identified by our laboratory in one individual with clinical features of Ush er syndrome who had a second pathogenic USH2A variant. The Trp2075X variant lead s to a premature stop codon at position 2075, which is predicted to lead to a tr uncated or absent protein. In summary, this variant meets our criteria to be cla ssified as pathogenic.
Invitae RCV001042426 SCV001206105 pathogenic not provided 2020-07-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2075*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome (PMID: 23352160). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 48554). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073793 SCV001239355 pathogenic Retinal dystrophy 2018-03-01 criteria provided, single submitter clinical testing

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