ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)

dbSNP: rs1553274424
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672102 SCV000797167 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001231865 SCV001404401 pathogenic not provided 2019-08-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant has been observed in an individual affected with retinitis pigmentosa (PMID: 26496393). ClinVar contains an entry for this variant (Variation ID: 556144). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp2523*) in the USH2A gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV003453343 SCV004183233 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453342 SCV004183234 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453343 SCV004206386 pathogenic Retinitis pigmentosa 39 2022-10-01 criteria provided, single submitter clinical testing

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