ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9473del (p.Lys3158fs)

dbSNP: rs2102796411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001526705 SCV001737127 pathogenic Usher syndrome type 2A 2021-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873709 SCV002246399 pathogenic not provided 2021-04-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys3158Serfs*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).
Genome-Nilou Lab RCV001526705 SCV004182683 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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