ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) (rs572147914)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169298 SCV000220617 pathogenic Wilson disease 2014-08-20 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724151 SCV000700720 pathogenic not provided 2016-10-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000169298 SCV000916631 pathogenic Wilson disease 2018-05-14 criteria provided, single submitter clinical testing Variant summary: ATP7B c.813C>A (p.Cys271X) 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. The variant allele was found at a frequency of 9.4e-05 in 244686 control chromosomes (gnomAD and publications). This frequency is not significantly higher than expected for a pathogenic variant in ATP7B causing Wilson Disease (9.4e-05 vs 5.40e-03), allowing no conclusion about variant significance. The variant, c.813C>A, has been reported in the literature in multiple individuals affected with Wilson Disease (Mukherjee_2014, Coffey_2013, Duc_1998). 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. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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