Submissions for variant NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)

dbSNP: rs2139201690

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003317794	SCV004020801	pathogenic	Wilson disease	2023-06-20	criteria provided, single submitter	clinical testing	Variant summary: ATP7B c.2697_2723del27 (p.Ile899_Gln907del) results in an in-frame deletion that is predicted to remove nine amino acids from the encoded protein. The variant was absent in 249564 control chromosomes (gnomAD). c.2697_2723del27 has been reported in the literature in multiple individuals affected with Wilson Disease (e.g. Lee_2011, Lee_2012, Aggarwal_2013, Xiao_2021, Zhang_2022). 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. The following publications have been ascertained in the context of this evaluation (PMID: 23551039, 22075048, 21645214, 34324271, 35220961). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics	RCV003317794	SCV004216405	likely pathogenic	Wilson disease	2023-06-06	criteria provided, single submitter	clinical testing