ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)

gnomAD frequency: 0.00016  dbSNP: rs140611214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069563 SCV001234739 pathogenic Nephronophthisis 15 2022-11-24 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 862771). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. This variant is present in population databases (rs140611214, gnomAD 0.06%). This sequence change creates a premature translational stop signal (p.Gln1247*) 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).
GeneDx RCV002067727 SCV002496345 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001069563 SCV002809773 likely pathogenic Nephronophthisis 15 2022-04-19 criteria provided, single submitter clinical testing

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