ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs797045402
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Total submissions: 7
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000193403 SCV001215706 pathogenic Wilson disease 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 591 of the ATP7B protein (p.Gly591Asp). This variant is present in population databases (rs797045402, gnomAD 0.0009%). This missense change has been observed in individual(s) with Wilson disease (PMID: 16088907, 21610751, 26799313). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 210482). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP7B protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects ATP7B function (PMID: 10557326, 17919502). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000193403 SCV001977365 likely pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002254284 SCV002525826 pathogenic not provided 2021-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000193403 SCV002787727 pathogenic Wilson disease 2021-09-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000193403 SCV004216409 pathogenic Wilson disease 2023-06-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000193403 SCV002087864 pathogenic Wilson disease 2020-10-04 no assertion criteria provided clinical testing

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