ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter)

gnomAD frequency: 0.00002  dbSNP: rs748394238
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000306208 SCV000330291 pathogenic not provided 2018-04-09 criteria provided, single submitter clinical testing The R338X pathogenic variant in the CERKL gene has been reported previously using alternate nomenclature (R364X) in the apparently homozygous state in one consanguineous individual with cone/cone-rod dystrophy (Boulanger-Scemama et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R338X variant is observed in 5/276,698 total alleles in large population cohorts (Lek et al., 2016). We interpret R338X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000306208 SCV001580883 pathogenic not provided 2022-07-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 280382). This premature translational stop signal has been observed in individual(s) with CERKL-related conditions (PMID: 26103963). This variant is present in population databases (rs748394238, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg364*) 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).
Institute of Human Genetics, University of Leipzig Medical Center RCV001277030 SCV001950106 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.1152-1G>C.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001277030 SCV003929398 pathogenic Retinitis pigmentosa 26 2023-06-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001277030 SCV005057392 pathogenic Retinitis pigmentosa 26 2024-03-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277030 SCV001463765 pathogenic Retinitis pigmentosa 26 2020-09-16 no assertion criteria provided clinical testing

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