ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs764893412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692933 SCV000820784 pathogenic Nephronophthisis 15 2023-08-07 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. Loss-of-function variants in CEP164 are known to be pathogenic (PMID: 22863007, 28125082, 32367404, 34132027, 34499853). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 571715). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. This variant is present in population databases (rs764893412, gnomAD 0.007%).
Fulgent Genetics, Fulgent Genetics RCV000692933 SCV002813215 likely pathogenic Nephronophthisis 15 2022-03-14 criteria provided, single submitter clinical testing

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