ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)

dbSNP: rs863224941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000200078 SCV000255504 likely pathogenic Usher syndrome type 2A 2013-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388624 SCV001589695 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3276*) 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 individual(s) with deafness (PMID: 25326637). ClinVar contains an entry for this variant (Variation ID: 217027). 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.
Genome-Nilou Lab RCV000200078 SCV004182648 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816341 SCV005072123 likely pathogenic Retinal dystrophy 2012-01-01 criteria provided, single submitter clinical testing

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