Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489545 | SCV000577221 | uncertain significance | not provided | 2017-04-06 | criteria provided, single submitter | clinical testing | The T529I variant has been published in patients diagnosed with Pseudoachondroplasia with limited evidence for pathogenicity (Kennedy et al. 2005; Jackson et al., 2012; Kennedy et al. 2005). The T529I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T529I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Gene |
RCV000033882 | SCV000057790 | not provided | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | no assertion provided | literature only |