Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002262599 | SCV002544840 | pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | CP: PVS1, PM2 |
Invitae | RCV000034951 | SCV003525673 | pathogenic | Deficiency of ferroxidase | 2023-05-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 42124). This variant is also known as aa882 CGA;ArgTGA;stop. This premature translational stop signal has been observed in individual(s) with autosomal recessive aceruloplasminemia (PMID: 11909923). This variant is present in population databases (rs386134156, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg901*) 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). |
Gene |
RCV000034951 | SCV000058571 | pathologic | Deficiency of ferroxidase | 2013-04-18 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |