ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) (rs780327716)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169497 SCV000220954 likely pathogenic Wilson disease 2014-12-13 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169497 SCV000916615 pathogenic Wilson disease 2018-02-12 criteria provided, single submitter clinical testing Variant summary: ATP7B c.1782delT (p.Tyr594X) 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 (eg.c.1820dupA/p.Phe608fsX2). The variant allele was found at a frequency of 8.1e-06 in 246350 control chromosomes. This frequency is not higher than expected for a pathogenic variant in ATP7B causing Wilson Disease (8.1e-06 vs 0.0054), allowing no conclusion about variant significance. The c.1782delT variant has been reported in the literature in multiple individuals affected with Wilson Disease. These data indicate that the variant is very likely to be associated with disease. 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.

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