Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000731015 | SCV000620075 | uncertain significance | not provided | 2017-08-31 | criteria provided, single submitter | clinical testing | The T88S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T88S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T88S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter 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. |
Eurofins Ntd Llc |
RCV000731015 | SCV000858785 | uncertain significance | not provided | 2017-12-20 | criteria provided, single submitter | clinical testing |