ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4280A>G (p.Gln1427Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003090275 SCV003479279 uncertain significance Wilson disease 2022-04-18 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt ATP7B protein function. This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1427 of the ATP7B protein (p.Gln1427Arg).
All of Us Research Program, National Institutes of Health RCV003090275 SCV004826992 uncertain significance Wilson disease 2023-04-27 criteria provided, single submitter clinical testing

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