ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) (rs780849567)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591592 SCV000708413 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV001045186 SCV001209023 pathogenic Nephronophthisis 15 2019-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg301*) in the CEP164 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780849567, ExAC 0.001%). This variant has not been reported in the literature in individuals with CEP164-related conditions. ClinVar contains an entry for this variant (Variation ID: 501891). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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