Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001372647 | SCV001569327 | uncertain significance | Saldino-Mainzer syndrome | 2020-03-10 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with IFT140-related conditions. This sequence change disrupts the translational stop signal of the IFT140 mRNA. It is expected to extend the length of the IFT140 protein by 55 additional amino acid residues. |