ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9307del (p.Ile3103fs)

dbSNP: rs1558121260
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075392 SCV001241014 likely pathogenic Retinal dystrophy 2018-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001205880 SCV001377160 pathogenic not provided 2023-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile3103Leufs*57) 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 variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 866968). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003455412 SCV004182715 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455412 SCV005055746 likely pathogenic Retinitis pigmentosa 39 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021431 SCV005645081 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-06-06 criteria provided, single submitter clinical testing

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