ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.-1C>G

dbSNP: rs547139318
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Total submissions: 2
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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 RCV000155876 SCV000205587 uncertain significance not specified 2013-08-06 criteria provided, single submitter clinical testing The -1C>G variant in USH2A has not been reported in individuals with hearing los s nor previously identified by our laboratory. Data from large population studie s is insufficient to assess the frequency of this variant. This variant is locat ed in the 5'UTR at the -1 nucleotide position and is conserved across species; t hough this information is insufficient to determine pathogenicity. Although we c annot rule out a deleterious impact on the regulation of splicing or translation of USH2A, to date no disease-causing variants have been found in this region of the transcript. In summary, additional information is needed to determine the c linical significance of this variant.
Natera, Inc. RCV001826842 SCV002094046 uncertain significance Usher syndrome type 2A 2019-11-11 no assertion criteria provided clinical testing

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