Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478591 | SCV000565109 | likely pathogenic | not provided | 2014-07-01 | criteria provided, single submitter | clinical testing | A novel F328Y variant that is likely pathogenic was identified in the LIAS gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The F328Y 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 highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded. |
Eurofins Ntd Llc |
RCV000478591 | SCV000703149 | uncertain significance | not provided | 2016-11-29 | criteria provided, single submitter | clinical testing |