ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12409del (p.Arg4137fs)

dbSNP: rs1657992342
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075268 SCV001240883 likely pathogenic Retinal dystrophy 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002557924 SCV003523481 pathogenic not provided 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 866897). This premature translational stop signal has been observed in individual(s) with Usher syndrome type II (PMID: 26338283). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg4137Glufs*30) 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 RCV003455410 SCV004182002 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing

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