ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15322del (p.Arg5108fs)

dbSNP: rs1553248234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671255 SCV000796212 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532108 SCV003310535 pathogenic not provided 2022-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg5108Glyfs*6) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 25575603). ClinVar contains an entry for this variant (Variation ID: 555433). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003453323 SCV004183247 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453322 SCV004183258 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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