ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)

gnomAD frequency: 0.00001  dbSNP: rs774951398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934553 SCV002134267 pathogenic Nephronophthisis 15 2021-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with CEP164-related conditions. This variant is present in population databases (rs774951398, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg837*) 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).
Fulgent Genetics, Fulgent Genetics RCV001934553 SCV002801696 likely pathogenic Nephronophthisis 15 2022-03-03 criteria provided, single submitter clinical testing

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