Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658028 | SCV000779799 | uncertain significance | not provided | 2018-05-02 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the PRICKLE1 gene.The E654K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E654K variant is not observed in large population cohorts (Lek et al., 2016). The E654K 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. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |