ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1707+2dup

dbSNP: rs781531824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804210 SCV000944106 uncertain significance Wilson disease 2021-08-12 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the ATP7B gene. It does not directly change the encoded amino acid sequence of the ATP7B protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs781531824, ExAC 0.001%). This variant has been observed in individual(s) with Wilson disease (PMID: 9801873). This variant is also known as c.1703+3insT. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000804210 SCV001977180 uncertain significance Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000804210 SCV004216347 likely pathogenic Wilson disease 2024-03-10 criteria provided, single submitter clinical testing

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