ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.239-1G>A

dbSNP: rs1559100465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729677 SCV000857355 likely pathogenic not provided 2017-10-05 criteria provided, single submitter clinical testing
Invitae RCV000729677 SCV001381177 pathogenic not provided 2022-02-10 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: 594404). Disruption of this splice site has been observed in individuals with inherited retinal dystrophy (PMID: 33090715; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 1 of the CERKL 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 CERKL are known to be pathogenic (PMID: 14681825, 23591405, 24043777).
Natera, Inc. RCV001825455 SCV002080298 likely pathogenic Retinitis pigmentosa 26 2021-03-22 no assertion criteria provided clinical testing

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