ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5167+4A>G

dbSNP: rs397518019
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Total submissions: 6
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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 RCV000041856 SCV000065552 uncertain significance not specified 2012-04-30 criteria provided, single submitter clinical testing The 5167+4A>G variant (USH2A) has not been reported in the literature nor previo usly identified by our laboratory. This variant is located in the 5' splice regi on and computational tools predict that the variant could alter splicing. Howeve r, this information is not predictive enough to assume pathogenicity. Additional information is needed to fully assess the clinical significance of the 5167+4A> G variant.
Invitae RCV001343509 SCV001537497 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 48530). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 25 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.
Genome-Nilou Lab RCV003445122 SCV004172126 uncertain significance Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001831704 SCV004172127 uncertain significance Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787734 SCV000926737 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Natera, Inc. RCV001831704 SCV002091574 uncertain significance Usher syndrome type 2A 2021-10-06 no assertion criteria provided clinical testing

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