ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1946+5dup

dbSNP: rs760759138
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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 RCV003155644 SCV003844374 uncertain significance not specified 2023-02-06 criteria provided, single submitter clinical testing Variant summary: ATP7B c.1946+5dupG alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Two predict the variant abolishes the canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 249578 control chromosomes (gnomAD). c.1946+5dupG has been reported in the literature in individuals affected with Wilson Disease (example: Coffey_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has 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 VUS-possibly pathogenic.

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