ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)

gnomAD frequency: 0.00001  dbSNP: rs886039449
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255405 SCV000321995 pathogenic not provided 2023-08-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 16963483, 28559085)
Blueprint Genetics RCV001074717 SCV001240310 likely pathogenic Retinal dystrophy 2019-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000255405 SCV001379478 pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys768*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 16963483, 28559085). ClinVar contains an entry for this variant (Variation ID: 265286). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003454778 SCV004182439 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003454778 SCV004206457 pathogenic Retinitis pigmentosa 39 2021-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271235 SCV001452247 pathogenic Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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