ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)

gnomAD frequency: 0.00001  dbSNP: rs2277447
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001289883 SCV001477882 uncertain significance Wilson disease 2020-03-26 criteria provided, single submitter clinical testing The ATP7B c.2029G>A; p.Glu677Lys variant (rs2277447), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the East Asian population with an allele frequency of 0.1% (23/17,978 alleles including 1 homozygote) in the Genome Aggregation Database. The glutamic acid at codon 677 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Glu677Lys variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001289883 SCV001643786 likely benign Wilson disease 2024-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001289883 SCV001977174 uncertain significance Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001289883 SCV004362487 uncertain significance Wilson disease 2022-12-22 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 677 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 27/249188 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.
All of Us Research Program, National Institutes of Health RCV001289883 SCV004846322 uncertain significance Wilson disease 2024-08-06 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 677 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 27/249188 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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