Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001367634 | SCV001563990 | uncertain significance | Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 153 of the ARL6 protein (p.Lys153Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs771963434, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ARL6-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. |