Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521058 | SCV000621109 | uncertain significance | not provided | 2017-10-11 | criteria provided, single submitter | clinical testing | The G1115V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G1115V variant is observed in 3/78197 (0.004%) alleles from individuals of European background, including 2 unrelated hemizygous individuals in large population cohorts (Lek et al., 2016). The G1115V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |