ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter) (rs1085307057)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490452 SCV000267219 pathogenic Wilson disease 2016-03-18 criteria provided, single submitter reference population
Integrated Genetics/Laboratory Corporation of America RCV000490452 SCV000918586 pathogenic Wilson disease 2018-02-15 criteria provided, single submitter clinical testing Variant summary: ATP7B c.2149C>T (p.Gln717X) 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.2165dupT (p.Arg723fsX32), c.2304dupC (p.Met769fsX26), and c.2336G>A (p.Trp779X)). The variant was absent in 120726 control chromosomes (ExAC). The variant, c.2149C>T, has been reported in the literature in individuals affected with Wilson Disease, whom are compound heterozygote and homozygote for the variant. These data indicate that the variant may be associated with disease. One ClinVar submission (assessment performed after 2014) classifies the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic.

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