ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6325+1G>A

dbSNP: rs1293202153
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803457 SCV000943329 pathogenic not provided 2024-02-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 32 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 individual(s) with retinitis pigmentosa (PMID: 20309401). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 648680). 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.
Baylor Genetics RCV003461145 SCV004208270 pathogenic Retinitis pigmentosa 39 2024-03-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021216 SCV005641038 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-06-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830736 SCV002090891 pathogenic Usher syndrome type 2A 2021-02-08 no assertion criteria provided clinical testing

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