ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2285+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771790 SCV005382541 likely pathogenic Deficiency of ferroxidase 2023-05-20 criteria provided, single submitter clinical testing The observed invariant splice donor c.2285+2T>C variant in CP gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.2285+2T>C variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. SpliceAI predicts this variant to cause donor loss (0.31). Loss of function variants have been previously reported to be disease causing. However, additional functional studies will be required to prove the pathogenciity of this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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