ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1708-25_1719del (rs1566560096)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694922 SCV000823390 pathogenic Wilson disease 2018-05-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 5 of the ATP7B gene, including the intron 4-exon 5 boundary (c.1708-25_1719del). This likely creates a premature translational stop signal and is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATP7B-related disease. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). For these reasons, this variant has been classified as Pathogenic.

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