Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000490133 | SCV000577420 | uncertain significance | not provided | 2017-03-30 | criteria provided, single submitter | clinical testing | The D294N variant in the SERPINA1 gene has been reported previously, using alternate nomenclature D270N, in a single individual from the general population with reduced alpha-1-antitrypsin who was also heterozygous for the M1 allele (Zorzetto et al., 2008). The D294N variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D294N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret D294N as a variant of uncertain significance. |
Counsyl | RCV000670695 | SCV000795583 | uncertain significance | Alpha-1-antitrypsin deficiency | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002248715 | SCV002519318 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing |