ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4090_4091GT[1] (p.Ser1365fs) (rs771603301)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410145 SCV000487020 pathogenic Wilson disease 2016-09-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000410145 SCV000593530 pathogenic Wilson disease 2016-02-17 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000410145 SCV000840281 not provided Wilson disease no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Integrated Genetics/Laboratory Corporation of America RCV000410145 SCV000694462 pathogenic Wilson disease 2017-02-28 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.4092_4093delGT (p.Ser1365Cysfs) variant results in a premature termination codon, predicted to cause a truncated or absent ATP7B protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool, Mutation Taster, predicts a damaging outcome for this variant. This variant is absent in the large control population database ExAC (0/108958 control chromosomes). One clinical diagnostic laboratories and multiple reputable databases classified this variant as pathogenic. In addition, the variant has been reported in numerous patients in the literature. Taken together, this variant is classified as pathogenic.

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