ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466534 SCV004206448 likely pathogenic Retinitis pigmentosa 39 2021-12-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003669436 SCV004389713 pathogenic not provided 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp3129Glyfs*30) 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 present in population databases (rs748200691, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818351 SCV005070902 pathogenic Retinal dystrophy 2019-01-01 no assertion criteria provided clinical testing

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