ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2498C>G (p.Ser833Ter)

gnomAD frequency: 0.00001  dbSNP: rs369900671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799580 SCV000939251 pathogenic Deficiency of ferroxidase 2023-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser833*) in the CP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CP are known to be pathogenic (PMID: 16629161). This variant is present in population databases (rs369900671, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CP-related conditions. ClinVar contains an entry for this variant (Variation ID: 645495). For these reasons, this variant has been classified as Pathogenic.

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