ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1864+1G>C (rs1559942361)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779391 SCV000915998 uncertain significance Deficiency of ferroxidase 2019-01-12 criteria provided, single submitter clinical testing The CP c.1864+1G>C variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. This variant has been reported in a compound heterozygous state with a nonsense variant in two sisters with aceruloplasminemia (Kim et al. 2017). This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the limited evidence, the c.1864+1G>C variant is classified as a variant of unknown significance but suspicious for pathogenicity for aceruloplasminemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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