ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.678-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1209393896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242249 SCV001415322 pathogenic not provided 2023-09-12 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 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 present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with clinical features of CERKL-related retinal dystrophy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 967359). 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 RCV003469461 SCV004216807 likely pathogenic Retinitis pigmentosa 26 2023-07-24 criteria provided, single submitter clinical testing
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002466648 SCV002761255 pathogenic Stargardt disease 2022-12-13 no assertion criteria provided research

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