Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658339 | SCV000780111 | uncertain significance | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | The M22I variant in the SPRED1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M22I variant is not observed in large population cohorts (Lek et al., 2016). The M22I 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 a deleterious effect. We interpret M22I as a variant of uncertain significance. |