Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000614949 | SCV000712035 | likely pathogenic | Idiopathic bronchiectasis | 2016-05-20 | criteria provided, single submitter | clinical testing | The p.Asn374fs variant in SCNN1A has not been previously reported in individuals with pulmonary disease or in large population studies. This variant is predicte d to cause a frameshift, which alters the protein?s amino acid sequence beginnin g at position 374 and leads to a premature termination codon 16 amino acids down stream. This alteration is then predicted to lead to a truncated or absent prote in. Heterozygous loss of function of the SCNN1A gene is an established disease m echanism in individuals with pseudohypoaldosteronism which can include a pulmona ry phenotype. In summary, although additional studies are required to fully esta blish its clinical significance, the p.Asn374fs variant is likely pathogenic. |