ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.254G>A (p.Gly85Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990607 SCV004807414 likely pathogenic Wilson disease 2024-03-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003990607 SCV004838480 uncertain significance Wilson disease 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces glycine with aspartic acid at codon 85 of the ATP7B protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with ATP7B-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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