ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu)

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Total submissions: 2
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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 RCV004016731 SCV004839289 uncertain significance Wilson disease 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces glutamine with glutamic acid at codon 389 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 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.
Ambry Genetics RCV004371982 SCV004914049 uncertain significance Inborn genetic diseases 2023-11-28 criteria provided, single submitter clinical testing The c.1165C>G (p.Q389E) alteration is located in exon 2 (coding exon 2) of the ATP7B gene. This alteration results from a C to G substitution at nucleotide position 1165, causing the glutamine (Q) at amino acid position 389 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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