Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520381 | SCV000621249 | uncertain significance | not provided | 2017-10-12 | criteria provided, single submitter | clinical testing | The G1327D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G1327D variant is not observed in large population cohorts (Lek et al., 2016). The G1327D 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Natera, |
RCV001834706 | SCV002094241 | uncertain significance | Leber congenital amaurosis | 2020-08-03 | no assertion criteria provided | clinical testing |