ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1739del (p.His580fs) (rs1555293357)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668761 SCV000793413 likely pathogenic Wilson disease 2017-08-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000668761 SCV001362726 likely pathogenic Wilson disease 2019-11-18 criteria provided, single submitter clinical testing Variant summary: ATP7B c.1739delA (p.His580ProfsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1782delT, p.Tyr594fsX1; c.2009_2015delATATGCT, p.Tyr670fsX1). The variant was absent in 249574 control chromosomes (gnomAD). c.1739delA has been reported in the literature in an individual affected with Wilson Disease (Lepori_2012). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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