ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2125C>T (p.Leu709Phe)

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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 RCV003503862 SCV004271262 likely benign Wilson disease 2023-10-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003503862 SCV004832971 uncertain significance Wilson disease 2024-09-02 criteria provided, single submitter clinical testing This missense variant replaces leucine with phenylalanine at codon 709 of the ATP7B protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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 been identified in 25/248772 chromosomes 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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