ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.2469+1G>A

dbSNP: rs1936553500
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036352 SCV001199712 pathogenic Lowe syndrome 2022-03-22 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: 835463). Disruption of this splice site has been observed in individuals with clinical features of Lowe syndrome (PMID: 21031565; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 22 of the OCRL 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 OCRL are known to be pathogenic (PMID: 19390221, 21031565, 22381590).

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