ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10387+5C>G

gnomAD frequency: 0.00003  dbSNP: rs746536041
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000612314 SCV000712498 uncertain significance not specified 2016-11-10 criteria provided, single submitter clinical testing The c.10387+5C>G variant in USH2A has not been previously reported in individual s with hearing loss, but has been identified in 2/66604 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 746536041). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. This variant is locat ed in the 5' splice region. Computational tools do not suggest an impact to spli cing. However, this information is not predictive enough to rule out pathogenici ty. In summary, the clinical significance of the c.10387+5C>G variant is uncerta in.
Invitae RCV002531149 SCV003456300 uncertain significance not provided 2021-09-16 criteria provided, single submitter clinical testing This sequence change falls in intron 52 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs746536041, ExAC 0.003%). 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: 505338). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV003446177 SCV004172024 uncertain significance Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001834929 SCV004172025 uncertain significance Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834929 SCV002088362 uncertain significance Usher syndrome type 2A 2019-11-11 no assertion criteria provided clinical testing

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