ClinVar Miner

Submissions for variant NM_000096.4(CP):c.643C>T (p.Arg215Ter)

gnomAD frequency: 0.00001  dbSNP: rs386134155
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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 RCV000034949 SCV000948975 pathogenic Deficiency of ferroxidase 2023-05-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 42122). For these reasons, this variant has been classified as Pathogenic. This variant is also known as R196Ter. This premature translational stop signal has been observed in individual(s) with aceruloplasminemia (PMID: 16629161). This variant is present in population databases (rs386134155, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg215*) 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).
GeneReviews RCV000034949 SCV000058569 pathologic Deficiency of ferroxidase 2013-04-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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