ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1731del (p.Glu577fs)

dbSNP: rs2108244261
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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 RCV002007364 SCV002230766 pathogenic Deficiency of ferroxidase 2022-06-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CP-related conditions. This sequence change creates a premature translational stop signal (p.Glu577Aspfs*47) 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).

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