Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244214 | SCV001417418 | uncertain significance | Bardet-Biedl syndrome | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with asparagine at codon 119 of the TTC8 protein (p.Ser119Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs761817038, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with TTC8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |