ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)

gnomAD frequency: 0.00001  dbSNP: rs765277720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001374266 SCV001571070 pathogenic Nephronophthisis 15 2025-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4*) 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). This variant is present in population databases (rs765277720, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. ClinVar contains an entry for this variant (Variation ID: 1064314). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001374266 SCV001752513 likely pathogenic Nephronophthisis 15 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV003229052 SCV003926121 uncertain significance not provided 2022-11-21 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

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