ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)

dbSNP: rs1553250192
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672574 SCV000797688 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855580 SCV002164860 pathogenic not provided 2023-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr4801Phefs*20) 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 0.0009%). 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: 556553). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003453349 SCV004183070 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453348 SCV004183071 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453349 SCV004208186 likely pathogenic Retinitis pigmentosa 39 2023-10-12 criteria provided, single submitter clinical testing

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