Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658336 | SCV000780108 | uncertain significance | not provided | 2018-05-31 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the OFD1 gene. The S994N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S994N 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. However, the S994N variant is not observed in large population cohorts (Lek et al., 2016). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |