ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)

dbSNP: rs727503725
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Total submissions: 5
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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 RCV000152604 SCV000201899 pathogenic Rare genetic deafness 2010-04-08 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376394 SCV001573515 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.6398G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Genome-Nilou Lab RCV001376394 SCV004181666 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453130 SCV004181667 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Invitae RCV003688831 SCV004429989 pathogenic not provided 2023-01-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 166484). This premature translational stop signal has been observed in individual(s) with USH2A-related conditions (PMID: 25425308, 33105608). This variant is present in population databases (rs727503725, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Trp2133*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).

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