ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14091del (p.Phe4697fs)

dbSNP: rs2102661189
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380768 SCV001578926 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe4697Leufs*2) 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 Usher syndrome (PMID: 27460420). ClinVar contains an entry for this variant (Variation ID: 1069040). For these reasons, this variant has been classified as Pathogenic.

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