ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3528del (p.Lys1176fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003647702 SCV004412405 pathogenic Nephronophthisis 15 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1176Asnfs*11) 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). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. For these reasons, this variant has been classified as Pathogenic.

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