Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523360 | SCV000621863 | uncertain significance | not provided | 2017-10-19 | criteria provided, single submitter | clinical testing | The F741S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The F741S variant is not observed in large population cohorts (Lek et al., 2016). F741S 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. 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. This variant has been observed with another pathogenic variant in FGFR3. |