Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000518976 | SCV000621291 | uncertain significance | not provided | 2017-10-04 | criteria provided, single submitter | clinical testing | The K1178E variant in the IFT140 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K1178E variant is observed in 27/33548 (0.08%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The K1178E 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 in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K1178E as a variant of uncertain significance. |
Invitae | RCV001853682 | SCV002151035 | likely benign | Saldino-Mainzer syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing |