ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2670C>G (p.Tyr890Ter)

gnomAD frequency: 0.00004  dbSNP: rs1043139127
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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 RCV001224634 SCV001396846 pathogenic Deficiency of ferroxidase 2022-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 952512). This variant has not been reported in the literature in individuals affected with CP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Tyr890*) 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).
Revvity Omics, Revvity RCV001224634 SCV002019713 pathogenic Deficiency of ferroxidase 2020-08-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004570545 SCV005050641 pathogenic not provided 2024-05-01 criteria provided, single submitter clinical testing CP: PVS1, PM2

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