ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3316+5G>C

gnomAD frequency: 0.00002  dbSNP: rs1442104013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073232 SCV001238768 uncertain significance Retinal dystrophy 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV001299388 SCV001488474 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 865756). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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 RCV003446604 SCV004172169 uncertain significance Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446603 SCV004172170 uncertain significance Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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