ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser) (rs1566580253)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755711 SCV000883175 likely pathogenic Wilson disease 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Wilson disease, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3 => Well-established functional studies show a deleterious effect activity. (https://www.ncbi.nlm.nih.gov/pubmed/22240481).

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