ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) (rs199821556)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000148375 SCV000267216 likely pathogenic Wilson disease 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000148375 SCV000800564 uncertain significance Wilson disease 2017-07-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000148375 SCV000915632 uncertain significance Wilson disease 2018-10-18 criteria provided, single submitter clinical testing The ATP7B c.3886G>A (p.Asp1296Asn) variant is a missense variant that has been reported in at least two studies and is found in a compound heterozygous state in three individuals from two families, including two brothers, with presymptomatic Wilson disease (Ohya et al. 2002; Nakayama et al. 2008). In each family an unaffected parent was heterozygous for the p.Asp1296Asn variant. This variant was reported in one of 50 controls and is reported at a frequency of 0.001815 in the European (Finnish) population of the Exome Aggregation Consortium (Lin et al. 2010). The evidence for this variant is limited. The p.Asp1296Asn variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for Wilson disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091634 SCV001247790 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Invitae RCV000148375 SCV001411835 uncertain significance Wilson disease 2019-09-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1296 of the ATP7B protein (p.Asp1296Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs199821556, ExAC 0.2%). This variant has been observed in an individuals with suspected Wilson disease (PMID: 11954751, 21707886, 18424137, 12032531) as well as in unaffected controls (PMID: 20465995, 28515472). ClinVar contains an entry for this variant (Variation ID: 161207). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CSER _CC_NCGL, University of Washington RCV000148375 SCV000190072 uncertain significance Wilson disease 2014-06-01 no assertion criteria provided research

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