Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002298459 | SCV002588127 | pathogenic | not provided | 2022-10-25 | criteria provided, single submitter | clinical testing | Variant results in substitution of the termination codon, leading to protein extension by 101 amino acids; Several different variants resulting in similar protein extensions have been reported in the Human Gene Mutation Database associated with thanatophoric dysplasia (HGMD), and have apparently similar functional consequences on protein stability and/or processing(Bonaventure et al., 2007; Gibbs et al., 2007); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 10425034, 25728633, 17509076, 17320202) |
Gene |
RCV000055765 | SCV000086714 | not provided | Thanatophoric dysplasia type 1 | no assertion provided | literature only | ||
Molecular Genetics Laboratory, |
RCV000055765 | SCV001338811 | pathogenic | Thanatophoric dysplasia type 1 | 2019-05-08 | no assertion criteria provided | clinical testing |