ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) (rs779791079)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179599 SCV000231869 pathogenic not provided 2014-10-08 criteria provided, single submitter clinical testing
Counsyl RCV000671027 SCV000795965 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000179599 SCV001168547 pathogenic not provided 2018-08-30 criteria provided, single submitter clinical testing The c.11875_11876delCA variant in the USH2A gene has been reported previously in association with Usher syndrome (Dreyer et al., 2008). The c.11875_11876delCA variant causes a frameshift starting with codon Glutamine 3959, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 53 of the new reading frame, denoted p.Gln3959AsnfsX53. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.11875_11876delCA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.11875_11876delCA as a pathogenic variant.
Blueprint Genetics RCV001073824 SCV001239388 pathogenic Retinal dystrophy 2018-05-22 criteria provided, single submitter clinical testing
Invitae RCV000179599 SCV001418176 pathogenic not provided 2019-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3959Asnfs*53) in the USH2A gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals affected with clinical features of retinal dystrophy (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 198318). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505154 SCV000598771 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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