ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)

dbSNP: rs1553257705
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674769 SCV000800162 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001042038 SCV001205696 pathogenic not provided 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu3811Metfs*5) 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 present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 558490). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003453388 SCV004182102 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453387 SCV004182104 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453388 SCV005055737 likely pathogenic Retinitis pigmentosa 39 2024-01-22 criteria provided, single submitter clinical testing

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