Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000197068 | SCV000255039 | uncertain significance | Jeune thoracic dystrophy | 2019-01-10 | criteria provided, single submitter | clinical testing | 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 IFT80-related conditions. ClinVar contains an entry for this variant (Variation ID: 216710). This variant is present in population databases (rs753478409, ExAC 0.01%). This sequence change replaces threonine with methionine at codon 313 of the IFT80 protein (p.Thr313Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. |