Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000733141 | SCV000622031 | uncertain significance | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | The L1466I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L1466I variant is observed in 5/110,870 (0.005%) alleles from individuals of European background (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. |
Eurofins Ntd Llc |
RCV000733141 | SCV000861165 | uncertain significance | not provided | 2018-05-08 | criteria provided, single submitter | clinical testing |