ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1708-1G>C (rs137853280)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004054 SCV000220772 likely pathogenic Wilson disease 2014-10-09 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000004054 SCV000918604 pathogenic Wilson disease 2018-07-23 criteria provided, single submitter clinical testing Variant summary: ATP7B c.1708-1G>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 3' acceptor site. At least one publication reports experimental evidence that this variant determines exon 5 skipping (Tsai_1999). The variant allele was found at a frequency of 2.9e-05 in 277094 control chromosomes (gnomAD). The variant, c.1708-1G>C, has been reported in the literature in multiple individuals affected with Wilson Disease (Coffey_2013, Hua_2016, Mukherjee_2014, Tsai_1999). These data indicate that the variant is very likely to be associated with disease. 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 pathogenic.
OMIM RCV000004054 SCV000024220 pathogenic Wilson disease 2000-11-01 no assertion criteria provided literature only

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