ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs)

dbSNP: rs1566468816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779818 SCV000916636 likely pathogenic Wilson disease 2018-08-15 criteria provided, single submitter clinical testing Variant summary: ATP7B c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100SerfsX26) 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.314C>A, p.Ser105X; c.525dupA, p.Val176fsX28; c.778dupC, p.Gln260fsX10). The variant was absent in 246242 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3298_3300delinsAGTGCCAGGCAGTGCCA in individuals affected with Wilson Disease and no experimental evidence demonstrating its impact on protein function have 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 likely pathogenic.

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