ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.677+581G>A

gnomAD frequency: 0.00001  dbSNP: rs1574454654
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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 RCV001223808 SCV001395974 pathogenic not provided 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp237*) in the CERKL gene. It is expected to result in an absent or disrupted protein product. 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: 951816). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473781 SCV004211589 likely pathogenic Retinitis pigmentosa 26 2023-05-18 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887920 SCV004706405 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV003473781 SCV005655333 likely pathogenic Retinitis pigmentosa 26 2024-04-25 criteria provided, single submitter clinical testing

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