ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)

dbSNP: rs794727579
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177821 SCV000229758 pathogenic not provided 2014-06-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002426 SCV001160363 pathogenic not specified 2019-03-18 criteria provided, single submitter clinical testing The USH2A c.6601C>T; p.Gln2201Ter variant (rs794727579), to our knowledge, is not reported in the medical literature. The variant is described as pathogenic in the ClinVar database (Variation ID: 196933) but is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. USH2A variants that induce a premature termination codon are described as pathogenic in the ClinVar database (see link below). Considering available information, this variant is classified as pathogenic. References: Link to USH2A in ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/?term=USH2A%5Bgene%5D
Blueprint Genetics RCV001075614 SCV001241241 likely pathogenic Retinal dystrophy 2019-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177821 SCV001579266 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2201*) 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 clinical features of Usher syndrome (PMID: 25425308, 29953849). ClinVar contains an entry for this variant (Variation ID: 196933). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003454452 SCV004181644 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003454452 SCV004208250 pathogenic Retinitis pigmentosa 39 2023-09-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826903 SCV002090882 pathogenic Usher syndrome type 2A 2020-11-16 no assertion criteria provided clinical testing

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