Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
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, |
RCV001001003 | SCV002086808 | uncertain significance | Wilson disease | 2021-10-06 | no assertion criteria provided | clinical testing |