ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1947-19T>A (rs1593733949)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine, Nationwide Children's Hospital RCV001003497 SCV001161426 likely pathogenic Wilson disease 2020-02-13 criteria provided, single submitter research This variant was identified by whole-genome sequencing of a consanguineous family in which two children carry a clinical diagnosis of Wilson disease. It is absent from the gnomAD database and segregates with WD in the family under the expected autosomal recessive inheritance model (both affected children are homozygous). Although located 19 bases into intron 5, the variant is predicted to disrupt an SC35 splicing enhancer motif and creates an hnRNP A1 splicing silencer motif according to Human Splicing Finder. RNA-seq of liver tissue from the proband demonstrated skipping of exons 6 and 7, disrupting key transmembrane and metal-binding domains. We interpret the variant as likely pathogenic.

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