ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) (rs778543794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671512 SCV000796496 uncertain significance Wilson disease 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000671512 SCV000947086 pathogenic Wilson disease 2019-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1052 of the ATP7B protein (p.Pro1052Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs778543794, ExAC 0.01%). This variant has been reported to segregate with Wilson disease in a family (Invitae), and it has been observed in several individuals affected with Wilson disease, although the presence of a second variant was not established in some cases (PMID: 10502777, 25089800, 27022412, 29321352, 31059521). 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: 555650). This variant has been reported to affect ATP7B protein function (PMID: 22240481). For these reasons, this variant has been classified as Pathogenic.

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