ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)

gnomAD frequency: 0.00004  dbSNP: rs149195472
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001361797 SCV001557787 pathogenic Nephronophthisis 15 2021-12-09 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: 1053450). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. This variant is present in population databases (rs149195472, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg151*) in the CEP164 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP164 are known to be pathogenic (PMID: 22863007, 28125082, 32367404, 34132027, 34499853).
Fulgent Genetics, Fulgent Genetics RCV001361797 SCV002807603 likely pathogenic Nephronophthisis 15 2022-05-09 criteria provided, single submitter clinical testing

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