ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) (rs1449610384)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780933 SCV000918596 pathogenic Wilson disease 2017-11-27 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.1531C>T (p.Gln511X) 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. This variant was found in 1/245556 control chromosomes (gnomAD) at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). The variant of interest has been reported in multiple affected compound heterozygote and homozygote WD patients, predominantly of Chinese origin (Dong_2016). A reputable database classifies the variant as "disease-causing." Taken together, this variant is classified as pathogenic.

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