ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6601C>T (p.Gln2201Ter) (rs794727579)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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:
Blueprint Genetics RCV001075614 SCV001241241 likely pathogenic Retinal dystrophy 2019-01-31 criteria provided, single submitter clinical testing
Invitae RCV000177821 SCV001579266 pathogenic not provided 2020-10-21 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Usher syndrome (PMID: 29953849, 25425308). ClinVar contains an entry for this variant (Variation ID: 196933). 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.

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