ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13392G>A (p.Trp4464Ter)

gnomAD frequency: 0.00001  dbSNP: rs1219505844
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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 RCV001951577 SCV002245290 pathogenic not provided 2024-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp4464*) 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 inherited retinal disease (PMID: 36460718). ClinVar contains an entry for this variant (Variation ID: 1460400). For these reasons, this variant has been classified as Pathogenic.
Dept Of Ophthalmology, Nagoya University RCV003888947 SCV004707243 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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