ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9466del (p.Thr3156fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003554891 SCV004292387 pathogenic not provided 2023-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr3156Leufs*4) 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). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Usher syndrome type II (PMID: 24944099). This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV004574091 SCV005055674 pathogenic Retinitis pigmentosa 39 2024-03-30 criteria provided, single submitter clinical testing

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