ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) (rs764893412)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692933 SCV000820784 pathogenic Nephronophthisis 15 2018-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg897*) in the CEP164 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764893412, ExAC 0.007%). This variant has not been reported in the literature in individuals with CEP164-related disease. Loss-of-function variants in CEP164 are known to be pathogenic (PMID: 22863007). For these reasons, this variant has been classified as Pathogenic.

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