ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11549-1G>A (rs878853407)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675178 SCV000800807 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-04-16 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197049 SCV001367684 pathogenic Usher syndrome, type 2A 2020-03-21 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PS4_MOD. This variant was detected in homozygous state.
Invitae RCV001383731 SCV001582984 pathogenic not provided 2020-05-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 59 of the USH2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome (PMID: 25649381, 28944237). ClinVar contains an entry for this variant (Variation ID: 236536). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants 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). For these reasons, this variant has been classified as Pathogenic.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225372 SCV000282646 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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