ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3251G>A (p.Trp1084Ter)

dbSNP: rs1363689100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230360 SCV001402836 pathogenic not provided 2022-01-12 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1084*) 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 premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 27460420). ClinVar contains an entry for this variant (Variation ID: 957389). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462783 SCV004206320 pathogenic Retinitis pigmentosa 39 2024-02-14 criteria provided, single submitter clinical testing

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