ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) (rs764131178)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000395391 SCV000384659 pathogenic Wilson disease 2017-04-27 criteria provided, single submitter clinical testing The ATP7B c.3182G>A (p.Gly1061Glu) missense variant has been well-documented as a pathogenic variant for Wilson disease in many different populations. Across a selection of available literature, the p.Gly1061Glu variant has been identified in a homozygous state in seven patients, in a compound heterozygous state in six patients, and in a heterozygous state in four patients in whom a second variant was not identified (Curtis et al. 1999; Loudianos et al. 1999; Margarit et al. 2005; Santhosh et al. 2006; Khan et al. 2012; Guggilla et al. 2015). Gupta et al. (2007) also found the p.Gly1061Glu variant on 11% of Wilson disease patient chromosomes in the Indian population. The p.Gly1061Glu variant was absent from 222 controls and is reported at a frequency of 0.00036 in the South Asian population of the Exome Aggregation Consortium. Based on the collective evidence, the p.Gly1061Glu variant is classified as pathogenic for Wilson disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506750 SCV000602614 pathogenic not specified 2017-01-12 criteria provided, single submitter clinical testing
Invitae RCV000395391 SCV001384896 pathogenic Wilson disease 2019-07-03 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1061 of the ATP7B protein (p.Gly1061Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs764131178, ExAC 0.04%). This variant has been observed to be homozygous or in combination with another ATP7B variant in several individuals affected with Wilson disease (PMID: 10502777, 17823867, 15024742, 10544227, 17264425). ClinVar contains an entry for this variant (Variation ID: 312383). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Centogene AG - the Rare Disease Company RCV000395391 SCV001424369 pathogenic Wilson disease criteria provided, single submitter clinical testing

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