ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) (rs761632029)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410034 SCV000486230 likely pathogenic Wilson disease 2016-09-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000410034 SCV001158499 likely pathogenic Wilson disease 2019-05-21 criteria provided, single submitter clinical testing The ATP7B c.3295G>A; p.Gly1099Ser variant (rs761632029) is reported in the literature in the trans-heterozygous state in multiple individuals affected with Wilson disease (Bruha 2011, Dufernez 2013, Lepori 2007, Margarit 2005, Merle 2010, Weitzman 2014). This variant is reported in ClinVar (Variation ID: 370820), and is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The glycine at codon 1099 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, this variant is considered to be likely pathogenic. References: Bruha R et al. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int. 2011 Jan;31(1):83-91. Dufernez F et al. Wilson disease in offspring of affected patients: report of four French families. Clin Res Hepatol Gastroenterol. 2013 Jun;37(3):240-5. Lepori MB et al. Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Genet Test. 2007 Fall;11(3):328-32. Margarit E et al. Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet. 2005 Jul;68(1):61-8. Merle U et al. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. BMC Gastroenterol. 2010 Jan 18;10:8. Weitzman E et al. Late onset fulminant Wilson's disease: a case report and review of the literature. World J Gastroenterol. 2014 Dec 14;20(46):17656-60.

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