ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV002510731 SCV002820281 likely pathogenic Joubert syndrome 15 criteria provided, single submitter clinical testing The stop gained p.R286* in CEP41 (NM_018718.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. It is present in the penultimate exon but further downstream loss of function variants have been reported, thus supporting occurence of nonsense mediated decay. The p.R286* variant is observed in 1/18,394 (0.0054%) alleles from individuals of East Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. For these reasons, this variant has been classified as Likely Pathogenic.
Ambry Genetics RCV002571602 SCV003542058 likely pathogenic Inborn genetic diseases 2020-10-05 criteria provided, single submitter clinical testing The c.856C>T (p.R286*) alteration, located in coding exon 10 of the CEP41 gene, consists of a C to T substitution at nucleotide position 856. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 286. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV002510731 SCV004301522 pathogenic Joubert syndrome 15 2022-11-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CEP41-related conditions. This variant is present in population databases (rs139123547, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg286*) in the CEP41 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP41 are known to be pathogenic (PMID: 22246503).

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