ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln)

gnomAD frequency: 0.00001  dbSNP: rs201483366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244058 SCV001417252 uncertain significance Wilson disease 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1440 of the ATP7B protein (p.Arg1440Gln). This variant is present in population databases (rs201483366, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 968828). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV001244058 SCV002786364 uncertain significance Wilson disease 2022-05-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001244058 SCV002086780 uncertain significance Wilson disease 2020-03-03 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001244058 SCV004228543 not provided Wilson disease no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-29-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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