ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) (rs1366496013)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000588348 SCV000693911 pathogenic Usher syndrome, type 2A 2017-06-25 criteria provided, single submitter research Reportedly 1 case with this variant in the supplement but that is not available at the time of review (broken link). In trans to a known pathogenic variant. In gnomAD, not found in exomes, once in genomes (1/30960 chromosomes). (PM2, PM3, PVS1).
Counsyl RCV000668783 SCV000793437 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-16 criteria provided, single submitter clinical testing
Invitae RCV000804948 SCV000944888 pathogenic not provided 2018-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile371Phefs*3) 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 an individual affected with retinitis pigmentosa (PMID: 18641288). ClinVar contains an entry for this variant (Variation ID: 495336). 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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