ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.1074-1G>C

gnomAD frequency: 0.00001  dbSNP: rs927261937
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219755 SCV001391708 likely pathogenic not provided 2024-02-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CERKL-related conditions. ClinVar contains an entry for this variant (Variation ID: 948491). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001724268 SCV001950107 pathogenic Retinitis pigmentosa 26 2021-08-24 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_001030311.3:c.1090C>T.
Fulgent Genetics, Fulgent Genetics RCV001724268 SCV002810863 likely pathogenic Retinitis pigmentosa 26 2021-08-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001724268 SCV004216783 pathogenic Retinitis pigmentosa 26 2023-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001724268 SCV002080267 likely pathogenic Retinitis pigmentosa 26 2021-01-13 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813903 SCV005069884 pathogenic Retinal dystrophy 2021-01-01 no assertion criteria provided clinical testing

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