ClinVar Miner

Submissions for variant NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)

gnomAD frequency: 0.00009  dbSNP: rs369483167
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000128444 SCV001395141 pathogenic Nephronophthisis 18 2024-05-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg209*) 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 present in population databases (rs369483167, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 24882706). 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: 139545). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000128444 SCV004040697 pathogenic Nephronophthisis 18 2023-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000128444 SCV005631599 pathogenic Nephronophthisis 18 2024-04-05 criteria provided, single submitter clinical testing
GeneDx RCV001528375 SCV005685677 likely pathogenic not provided 2024-07-26 criteria provided, single submitter clinical testing Identified with another CEP83 variant in two unrelated patients with renal disease and retinal dystrophy in published literature, one of which was confirmed to be on the opposite allele (in trans) (PMID: 36672815, 24882706); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34426522, 33938610, 36672815, 24882706)
OMIM RCV000128444 SCV000172125 pathogenic Nephronophthisis 18 2014-06-05 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528375 SCV001740030 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528375 SCV001927771 pathogenic not provided no assertion criteria provided clinical testing

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