ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069979 SCV001235184 likely pathogenic Wilson disease 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 616 of the ATP7B protein (p.Arg616Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs374172791, ExAC 0.006%). This variant has been observed in individuals affected with Wilson disease (PMID: 11690702, 28507923). This variant has been reported to have conflicting or insufficient data to determine the effect on ATP7B protein function (PMID: 22240481, 17919502, 17680703). This variant disrupts the p.Arg616 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12885331, 21610751, 22735241, 26799313). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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