ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.387del (p.Phe129fs)

dbSNP: rs1484339054
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671976 SCV000797025 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001068679 SCV001233804 pathogenic not provided 2022-08-09 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: 556037). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe129Leufs*16) 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).
Blueprint Genetics RCV001075571 SCV001241198 likely pathogenic Retinal dystrophy 2019-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000671976 SCV002782935 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2022-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453337 SCV004182984 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453336 SCV004182985 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453337 SCV004208194 likely pathogenic Retinitis pigmentosa 39 2023-10-10 criteria provided, single submitter clinical testing

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