ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2520_2523del (p.Thr841fs)

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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 RCV003632931 SCV004553746 pathogenic Deficiency of ferroxidase 2023-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr841Argfs*52) 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 (rs752232577, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with aceruloplasminemia (PMID: 32235485). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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