ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4251+1G>T

dbSNP: rs878853405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376344 SCV001573459 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.4251+1G>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001389192 SCV001590460 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 19 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with USH2A-related conditions (PMID: 27208204; Invitae). ClinVar contains an entry for this variant (Variation ID: 1065706). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001376344 SCV004172153 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001376344 SCV004206421 pathogenic Retinitis pigmentosa 39 2022-04-29 criteria provided, single submitter clinical testing

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