ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9912dup (p.Glu3305fs)

gnomAD frequency: 0.00001  dbSNP: rs759255743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242876 SCV001415995 pathogenic not provided 2023-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 967864). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 25649381). This variant is present in population databases (rs759255743, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu3305Argfs*41) 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).

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