ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12294+1G>C

dbSNP: rs111033526
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Total submissions: 3
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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 RCV000041716 SCV000065412 likely pathogenic Rare genetic deafness 2010-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386543 SCV001586804 pathogenic not provided 2022-11-01 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: 48394). Disruption of this splice site has been observed in individuals with retinitis pigmentosa or Usher syndrome (PMID: 28157192; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 62 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).
Genome-Nilou Lab RCV003445120 SCV004173916 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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