ClinVar Miner

Submissions for variant NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter)

gnomAD frequency: 0.00001  dbSNP: rs1207804224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701469 SCV000830271 pathogenic Nephronophthisis 18 2021-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg630*) in the CEP83 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP83 are known to be pathogenic (PMID: 23530209, 24882706). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CEP83-related conditions. ClinVar contains an entry for this variant (Variation ID: 578457).

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