Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000519048 | SCV000620132 | uncertain significance | not provided | 2017-08-22 | criteria provided, single submitter | clinical testing | The M517T variant in the SCNN1G gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M517T variant is observed in 10/6604 (0.15%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The M517T 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret M517T as a variant of uncertain significance. |
| Fulgent Genetics, |
RCV000764039 | SCV000894993 | uncertain significance | Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2 | 2021-08-05 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000519048 | SCV004517675 | likely benign | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing |