ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val)

gnomAD frequency: 0.00003  dbSNP: rs770428835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001003 SCV001158110 uncertain significance Wilson disease 2019-01-03 criteria provided, single submitter clinical testing The ATP7B c.3473G>T; p.Gly1158Val variant (rs776086518) is described in the medical literature in at least one individual with a suspected diagnosis of Wilson disease who also carried an additional pathogenic variant (Moller 2011). The variant is reported in the general population with an allele frequency of 0.002% (4 out of 249586 alleles) in the Genome Aggregation Database. The glycine at this position is moderately conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Considering available information, the clinical significance of this variant cannot be determined with certainty. References: Moller LB et al. Clinical presentation and mutations in Danish patients with Wilson disease. Eur J Hum Genet. 2011 Sep;19(9):935-41.
Natera, Inc. RCV001001003 SCV002086808 uncertain significance Wilson disease 2021-10-06 no assertion criteria provided clinical testing

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