ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11533C>T (p.Gln3845Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464857 SCV004206452 pathogenic Retinitis pigmentosa 39 2021-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003553976 SCV004292381 pathogenic not provided 2023-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3845*) 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: 20507924). For these reasons, this variant has been classified as Pathogenic.

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