ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003877644 SCV004684708 pathogenic Deficiency of ferroxidase 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu905*) 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 (rs762368526, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CP-related conditions. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004747403 SCV005359874 pathogenic CP-related disorder 2024-04-10 no assertion criteria provided clinical testing The CP c.2712delC variant is predicted to result in premature protein termination (p.Leu905*). To our knowledge, this variant has not been reported in the literature. This variant is reported in just one allele of ~251,000 in gnomAD, indicating it is rare. Premature termination variants in CP are expected to be pathogenic, and nearby examples have been associated with disease (p.Arg901*, Takeuchi et al. 2002. PubMed ID: 11909923). Taken together, this variant is interpreted as pathogenic.

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