ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247354 SCV001420769 pathogenic Nephronophthisis 15 2019-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln737*) in the CEP164 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CEP164-related conditions. 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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