ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2253G>A (p.Trp751Ter)

dbSNP: rs1559940237
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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 RCV000697053 SCV000825643 pathogenic Deficiency of ferroxidase 2017-07-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp751*) in the CP gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CP are known to be pathogenic (PMID: 16629161). This variant has not been reported in the literature in individuals with CP-related disease. This variant is not present in population databases (ExAC no frequency).

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