ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1073del (p.Cys358fs)

dbSNP: rs1951985366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174638 SCV001337847 pathogenic Wilson disease 2020-01-27 criteria provided, single submitter clinical testing Variant summary: ATP7B c.1073delG (p.Cys358SerfsX5) 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 249472 control chromosomes. c.1073delG has been reported in the literature in at-least one individual affected with Wilson Disease (Davies_2008) and subsequently cited by others (example, Lin_2010, and Liu_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Genome-Nilou Lab RCV001174638 SCV001977385 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV001174638 SCV004296500 pathogenic Wilson disease 2023-06-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 917587). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 18373411). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys358Serfs*5) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883).

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