ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2168-1G>C

gnomAD frequency: 0.00001  dbSNP: rs748961218
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672901 SCV000798053 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-02-21 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075017 SCV001240627 pathogenic Retinal dystrophy 2018-02-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092379 SCV001248860 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001092379 SCV001584156 pathogenic not provided 2023-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 556842). Disruption of this splice site has been observed in individuals with USH2A-related conditions (PMID: 17405132, 28559085, 29151245, 31054281). This variant is present in population databases (rs748961218, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 12 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526604 SCV001737033 pathogenic Hearing impairment criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001829879 SCV004101246 pathogenic Usher syndrome type 2A 2022-09-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446334 SCV004172178 pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001829879 SCV004172180 pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829879 SCV002093961 pathogenic Usher syndrome type 2A 2020-02-26 no assertion criteria provided clinical testing

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