ClinVar Miner

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

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Total submissions: 2
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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: https://www.ncbi.nlm.nih.gov/clinvar/?term=USH2A%5Bgene%5D

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