ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) (rs797045402)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193403 SCV000246743 likely pathogenic Wilson disease 2014-10-28 criteria provided, single submitter clinical testing
Invitae RCV000193403 SCV001215706 pathogenic Wilson disease 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 591 of the ATP7B protein (p.Gly591Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Wilson disease (PMID: 16088907, 21610751, 26799313). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 210482). This variant has been reported to affect ATP7B protein function (PMID:10557326, 17919502). For these reasons, this variant has been classified as Pathogenic.

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