Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187664 | SCV000241261 | uncertain significance | not provided | 2018-01-16 | criteria provided, single submitter | clinical testing | The V1266I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V1266I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. |