ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10182+5T>C

gnomAD frequency: 0.00001  dbSNP: rs1049628868
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037021 SCV001200412 uncertain significance not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change falls in intron 51 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 not present in population databases (gnomAD no frequency). 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: 836001). 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 is not likely to affect RNA splicing. 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.
Fulgent Genetics, Fulgent Genetics RCV002497358 SCV002814351 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-07-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446593 SCV004172030 uncertain significance Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273697 SCV004172031 uncertain significance Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273697 SCV001457066 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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