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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000668761 SCV001362726 pathogenic Wilson disease 2021-02-13 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. The variant was absent in 249574 control chromosomes. c.1739delA has been reported in the literature in individuals affected with Wilson Disease and has been subsequently cited by others (example, Lepori_2012, Sanchez-Monteagudo_2020, Chen Claire Hou_2020, Liu_2018, Singh_2019). These data indicate that the variant is associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic citing one overlapping publication utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as pathogenic.

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