ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) (rs111033268)

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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 RCV000041884 SCV000065580 likely pathogenic Rare genetic deafness 2007-08-24 criteria provided, single submitter clinical testing
Counsyl RCV000673453 SCV000798657 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV001213783 SCV001385433 pathogenic not provided 2019-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile2097*) 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 several individuals affected with clinical features of Usher syndrome 2A (USH2A) (PMID: 19788668, 20507924). ClinVar contains an entry for this variant (Variation ID: 48558). 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.

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