ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs)

dbSNP: rs1026405158
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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 RCV001384628 SCV001584199 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr490Leufs*5) 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 present in population databases (no rsID available, gnomAD 0.003%). 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: 1072011). For these reasons, this variant has been classified as Pathogenic.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324564 SCV004030370 pathogenic Retinitis pigmentosa 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Baylor Genetics RCV003469706 SCV004216795 likely pathogenic Retinitis pigmentosa 26 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003469706 SCV005655321 likely pathogenic Retinitis pigmentosa 26 2024-04-15 criteria provided, single submitter clinical testing

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