ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2649dup (p.Pro884fs)

dbSNP: rs2036054600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074614 SCV001240205 likely pathogenic Retinal dystrophy 2019-01-28 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268584 SCV001447610 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001268584 SCV002237059 pathogenic not provided 2020-12-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 866539). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro884Alafs*9) 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).
Genome-Nilou Lab RCV003455369 SCV004182413 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing

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