ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)

gnomAD frequency: 0.00002  dbSNP: rs1284826852
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671635 SCV000796627 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855563 SCV002194797 pathogenic not provided 2024-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly2225Trpfs*6) 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 (no rsID available, gnomAD 0.01%). 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: 555755). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003453329 SCV004181630 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453328 SCV004181631 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453329 SCV004200679 likely pathogenic Retinitis pigmentosa 39 2023-06-13 criteria provided, single submitter clinical testing

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