ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3835G>T (p.Asp1279Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004807619 SCV005431178 likely pathogenic Wilson disease 2024-04-25 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with tyrosine at codon 1279 of the ATP7B protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function. This variant alters a conserved amino acid residue in the P domain of the ATP7B protein, a highly conserved region that is considered to be important for ATP7B protein function (PMID: 35245129). To our knowledge, functional studies have not been reported for this variant. This variant has been observed in individuals affected with autosomal recessive Wilson disease (PMID: 16207219, 16636554), with at least one individual confirmed to carry a second pathogenic variant in trans, indicating that this variant contributes to disease. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.

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